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2. The Reversibility of Cellular Automata on Trees with Loops

Author

del Rey, A. Martín, Bernal, E. Frutos, Serrano, D. Hernández, Vara, R. Casado, Kacprzyk, Janusz, Series Editor, Pal, Nikhil R., Advisory Editor, Bello Perez, Rafael, Advisory Editor, Corchado, Emilio S., Advisory Editor, Hagras, Hani, Advisory Editor, Kóczy, László T., Advisory Editor, Kreinovich, Vladik, Advisory Editor, Lin, Chin-Teng, Advisory Editor, Lu, Jie, Advisory Editor, Melin, Patricia, Advisory Editor, Nedjah, Nadia, Advisory Editor, Nguyen, Ngoc Thanh, Advisory Editor, Wang, Jun, Advisory Editor, Dong, Yucheng, editor, Herrera-Viedma, Enrique, editor, Matsui, Kenji, editor, Omatsu, Shigeru, editor, González Briones, Alfonso, editor, and Rodríguez González, Sara, editor

Published
2021
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3. Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

Author

Hörster, F., Jelsig, A.M., de Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides-Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco-Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes I., Dionisi-Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Karall, D., Scholl-Bürgi, S., De Laet, C., Matsumoto, S., de Meirleir, L., Schiff, M., Peña-Quintana, L., Djordjevic, M., Sarajlija, A., Sykut-Cegielska, J., Wisniewska, A., Leao-Teles, E., Alves, S., Vara, R., Vives-Pinera, I., Gil-Ortega, D., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C., Barić, I., Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Lund, Allan M., Rizopoulos, Dimitris, Kölker, Stefan, and Williams, Monique

Published
2019
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7. The natural history of classic galactosemia: lessons from the GalNet registry

Author

Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., de Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., and Berry, G. T.

Published
2019
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12. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

Author

Vliet, K. van, Ginkel, W.G. van, Jahja, R., Daly, A., MacDonald, A., Santra, S., Laet, C. de, Goyens, P.J., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Gissen, P., Bierau, J., Hasselt, P.M. van, Wilcox, G., Morris, A.A., Jameson, E.A., Parra, A. de la, Arias, C., Garcia, Maria I., Cornejo, V., Bosch, A.M., Hollak, C.E., Rubio-Gozalbo, M.E., Brouwers, M., Hofstede, F.C., Vries, M.C. de, Janssen, M.C.H., Ploeg, A.T. van der, Langendonk, J.G., Huijbregts, S.C.J., Spronsen, F.J. van, Vliet, K. van, Ginkel, W.G. van, Jahja, R., Daly, A., MacDonald, A., Santra, S., Laet, C. de, Goyens, P.J., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Gissen, P., Bierau, J., Hasselt, P.M. van, Wilcox, G., Morris, A.A., Jameson, E.A., Parra, A. de la, Arias, C., Garcia, Maria I., Cornejo, V., Bosch, A.M., Hollak, C.E., Rubio-Gozalbo, M.E., Brouwers, M., Hofstede, F.C., Vries, M.C. de, Janssen, M.C.H., Ploeg, A.T. van der, Langendonk, J.G., Huijbregts, S.C.J., and Spronsen, F.J. van

Abstract

Item does not contain fulltext, Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine-tyrosine metabolism. Neurocognitive and behavioral outcomes have always featured in PKU research but received less attention in TT1 research. This study aimed to investigate and compare neurocognitive, behavioral, and social outcomes of treated TT1 and PKU patients. We included 33 TT1 patients (mean age 11.24 years; 16 male), 31 PKU patients (mean age 10.84; 14 male), and 58 age- and gender-matched healthy controls (mean age 10.82 years; 29 male). IQ (Wechsler-subtests), executive functioning (the Behavioral Rating Inventory of Executive Functioning), mental health (the Achenbach-scales), and social functioning (the Social Skills Rating System) were assessed. Results of TT1 patients, PKU patients, and healthy controls were compared using Kruskal-Wallis tests with post-hoc Mann-Whitney U tests. TT1 patients showed a lower IQ and poorer executive functioning, mental health, and social functioning compared to healthy controls and PKU patients. PKU patients did not differ from healthy controls regarding these outcome measures. Relatively poor outcomes for TT1 patients were particularly evident for verbal IQ, BRIEF dimensions "working memory", "plan and organize" and "monitor", ASEBA dimensions "social problems" and "attention problems", and for the SSRS "assertiveness" scale (all p values <0.001). To conclude, TT1 patients showed cognitive impairments on all domains studied, and appeared to be significantly more affected than PKU patients. More attention should be paid to investigating and monitoring neurocognitive outcome in TT1 and research should focus on explaining the underlying pathophysiological mechanism.

Published
2022

13. Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry

Author

Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Barić, Ivo, Lund, Allan M., Kölker, Stefan, Williams, Monique, Hörster, F., Jelsig, A.M., de Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides‐Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco‐ Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes i, Dionisi‐ Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh‐Liang, Chien, Yin‐Hsiu, Lee, Ni‐Chung, Karall, D., Scholl‐Bürgi, S., Lachmann, R., De Laet, C., Matsumoto, S., de Meirleir, L., Mühlhausen, C., Schiff, M., Peña‐Quintana, L., Djordjevic, M., Sarajlija, A., Sykut‐Cegielska, J., Wisniewska, A., Leao‐Teles, E., Alves, S., Vara, R., Vives‐Pinera, I., Ortega, D.G., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C., Additional individual contributors from E‐IMD, Pediatrics, Paediatric Metabolic Diseases, AGEM - Inborn errors of metabolism, ARD - Amsterdam Reproduction and Development, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), and E-IMD

Subjects
Adult, Male, Ornithine, medicine.medical_specialty, Propionic Acidemia, Adolescent, organic acidurias, Protein metabolism, Ornithine transcarbamylase, amino acid mixtures, Gastroenterology, Reference Daily Intake, Young Adult, chemistry.chemical_compound, Valine, Internal medicine, Genetics, medicine, Humans, Hyperammonemia, dietary and supplemental treatment, Registries, Amino Acids, branched-chain amino acids, Child, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders, Inborn, Genetics (clinical), Retrospective Studies, L-citrulline and L-arginine, business.industry, urea-cycle disorders, Infant, Europe, Cross-Sectional Studies, Treatment Outcome, chemistry, Methylmalonic aciduria, Child, Preschool, Urea cycle, Dietary Supplements, Feasibility Studies, Female, Human medicine, Leucine, business
Abstract

Organic acidurias (OAD) and urea-cycle disorders (UCD) are rare inherited disorders affecting amino acid and protein metabolism. As dietary practice varies widely, we assessed their long-term prescribed dietary treatment against published guideline and studied plasma amino acids levels. We analyzed data from the first visit recorded in the European registry and network for intoxication type metabolic diseases (E-IMD, Chafea no. 2010 12 01). In total, 271 methylmalonic aciduria (MMA) and propionic aciduria (PA) and 361 UCD patients were included. Median natural protein prescription was consistent with the recommended daily allowance (RDA), plasma L-valine (57%), and L-isoleucine (55%) levels in MMA and PA lay below reference ranges. Plasma levels were particularly low in patients who received amino acid mixtures (AAMs-OAD) and L-isoleucine:L-leucine:L-valine (BCAA) ratio was 1.0:3.0:3.2. In UCD patients, plasma L-valine, L-isoleucine, and L-leucine levels lay below reference ranges in 18%, 30%, and 31%, respectively. In symptomatic UCD patients who received AAM-UCD, the median natural protein prescription lay below RDA, while their L-valine and L-isoleucine levels and plasma BCAA ratios were comparable to those in patients who did not receive AAM-UCD. Notably, in patients with ornithine transcarbamylase syndrome (OTC-D), carbamylphosphate synthetase 1 syndrome (CPS1-D) and hyperammonemia-hyperornithinemia-homocitrullinemia (HHH) syndrome selective L-citrulline supplementation resulted in higher plasma L-arginine levels than selective L-arginine supplementation. In conclusion, while MMA and PA patients who received AAMs-OAD had very low BCAA levels and disturbed plasma BCAA ratios, AAMs-UCD seemed to help UCD patients obtain normal BCAA levels. In patients with OTC-D, CPS1-D, and HHH syndrome, selective L-citrulline seemed preferable to selective L-arginine supplementation.

Published
2019
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14. MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES

Author

Phadke, R., primary, Hedberg-Oldfors, C., additional, Scalco, R., additional, Lowe, D., additional, Ashworth, M., additional, Novelli, M., additional, Vara, R., additional, Merwick, A., additional, Amer, H., additional, Sofat, R., additional, Sugarman, M., additional, Jovanovic, A., additional, Roberts, M., additional, Nakou, V., additional, King, A., additional, Bodi, I., additional, Jungbluth, H., additional, Oldfors, A., additional, and Murphy, E., additional

Published
2020
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16. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disordersA successful strategy for clinical research of rare diseases

Author

Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Ah Mew N, Batshaw ML, Baumgartner MR, McCandless S, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P, and Additional individual contributors of the UCDC and the E-IMD consortium

Abstract

To improve our understanding of urea cycle disorders (UCDs) prospectively followed by two North American (NA) and European (EU) patient cohorts.

Published
2019

20. Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

Author

Molema, Femke, primary, Gleich, Florian, additional, Burgard, Peter, additional, van der Ploeg, Ans T., additional, Summar, Marshall L., additional, Chapman, Kimberly A., additional, Lund, Allan M., additional, Rizopoulos, Dimitris, additional, Kölker, Stefan, additional, Williams, Monique, additional, Hörster, F., additional, Jelsig, A.M., additional, de Lonlay, P., additional, Wijburg, F.A., additional, Bosch, A., additional, Freisinger, P., additional, Posset, R., additional, Augoustides-Savvopoulou, P., additional, Avram, P., additional, Deleanu, C., additional, Baumgartner, M.R., additional, Häberle, J., additional, Blasco-Alonso, J., additional, Burlina, A.B., additional, Rubert, L., additional, Cazorla, A. Garcia, additional, Saladelafont, E. Cortes I., additional, Dionisi-Vici, C., additional, Martinelli, D., additional, Dobbelaere, D., additional, Mention, K., additional, Grünewald, S., additional, Chakrapani, A., additional, Hwu, Wuh-Liang, additional, Chien, Yin-Hsiu, additional, Lee, Ni-Chung, additional, Karall, D., additional, Scholl-Bürgi, S., additional, De Laet, C., additional, Matsumoto, S., additional, de Meirleir, L., additional, Schiff, M., additional, Peña-Quintana, L., additional, Djordjevic, M., additional, Sarajlija, A., additional, Sykut-Cegielska, J., additional, Wisniewska, A., additional, Leao-Teles, E., additional, Alves, S., additional, Vara, R., additional, Vives-Pinera, I., additional, Gil-Ortega, D., additional, Morris, A., additional, Zeman, J., additional, Honzik, T., additional, Chabrol, B., additional, Arnaudo, F., additional, Cano, A., additional, Thompson, N., additional, Eyskens, F., additional, Lindner, M., additional, Lüsebrink, N., additional, Jalan, A., additional, Sokal, E., additional, Legros, V., additional, Nassogne, M.C., additional, and Barić, I., additional

Published
2019
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21. The natural history of classic galactosemia: lessons from the GalNet registry

Author

Rubio-Gozalbo, M.E. (Estela), Haskovic, M., van den Bosch, A.M., Burnyte, B., Coelho, A.I., Cassiman, D, Couce, ML, Dawson, C., Demirbas, D., Derks, T., Eyskens, F. (François), Forga, M.T., Grünewald, S. (Sonja), Häberle, J. (Johannes), Hochuli, M. (Michel), Hubert, A., Huidekoper, H.H., Janeiro, P., Kotzka, J., Knerr, I. (Ina), Labrune, P., Landau, Y.E., Langendonk, J.G. (Janneke), Moeslinger, D., Mueller-Wieland, D., Murphy, E. (Elaine), Õunap, K. (Katrin), Ramadza, D., Rivera, I.A., Scholl-Buergi, S., Stepien, K.M., Thijs, A., Tran, C., Vara, R, Visser, G., Vos, R.O., Vries, M. (Marieke) de, Waisbren, S.E., Welsink-Karssies, M.M., Wortmann, S.B. (S.), Gautschi, M. (Matthias), Treacy, E.P., Berry, G.T., Rubio-Gozalbo, M.E. (Estela), Haskovic, M., van den Bosch, A.M., Burnyte, B., Coelho, A.I., Cassiman, D, Couce, ML, Dawson, C., Demirbas, D., Derks, T., Eyskens, F. (François), Forga, M.T., Grünewald, S. (Sonja), Häberle, J. (Johannes), Hochuli, M. (Michel), Hubert, A., Huidekoper, H.H., Janeiro, P., Kotzka, J., Knerr, I. (Ina), Labrune, P., Landau, Y.E., Langendonk, J.G. (Janneke), Moeslinger, D., Mueller-Wieland, D., Murphy, E. (Elaine), Õunap, K. (Katrin), Ramadza, D., Rivera, I.A., Scholl-Buergi, S., Stepien, K.M., Thijs, A., Tran, C., Vara, R, Visser, G., Vos, R.O., Vries, M. (Marieke) de, Waisbren, S.E., Welsink-Karssies, M.M., Wortmann, S.B. (S.), Gautschi, M. (Matthias), Treacy, E.P., and Berry, G.T.

Abstract

Background: Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to treat the neonatal life-threatening manifestations and has been the cornerstone of treatment for this severe disease. However, burdensome complications occur despite a lifelong diet. For rare diseases, a patient disease specific registry is fundamental to monitor the lifespan pathology and to evaluate the safety and efficacy of potential therapies. In 2014, the international Galactosemias Network (GalNet) developed a web-based patient registry for this disease, the GalNet Registry. The aim was to delineate the natural history of classic galactosemia based on a large dataset of patients. Methods: Observational data derived from 15 countries and 32 centers including 509 patients were acquired between December 2014 and July 2018. Results: Most affected patients experienced neonatal manifestations (79.8%) and despite following a diet developed brain impairments (85.0%), primary ovarian insufficiency (79.7%) and a diminished bone mineral density (26.5%). Newborn screening, age at onset of dietary treatment, strictness of the galactose-restricted diet, p.Gln188Arg mutation and GALT enzyme activity influenced the clinical picture. Detection by newborn screening and commencement of diet in the first week of life were associated with a more favorable outcome. A homozygous p.Gln188Arg mutation, GALT enzyme activity of ≤ 1% and strict galactose restriction were associated with a less favorable outcome. Conclusion: This study describes the natural history of classic galactosemia based on the hitherto largest data set

Published
2019
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22. The natural history of classic galactosemia: lessons from the GalNet registry

Author

Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce Pico, María de la Luz, Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., de Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., Berry, G. T., Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce Pico, María de la Luz, Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., de Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., and Berry, G. T.

Abstract

Background: Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to treat the neonatal life-threatening manifestations and has been the cornerstone of treatment for this severe disease. However, burdensome complications occur despite a lifelong diet. For rare diseases, a patient disease specific registry is fundamental to monitor the lifespan pathology and to evaluate the safety and efficacy of potential therapies. In 2014, the international Galactosemias Network (GalNet) developed a web-based patient registry for this disease, the GalNet Registry. The aim was to delineate the natural history of classic galactosemia based on a large dataset of patients. Methods: Observational data derived from 15 countries and 32 centers including 509 patients were acquired between December 2014 and July 2018. Results: Most affected patients experienced neonatal manifestations (79.8%) and despite following a diet developed brain impairments (85.0%), primary ovarian insufficiency (79.7%) and a diminished bone mineral density (26.5%). Newborn screening, age at onset of dietary treatment, strictness of the galactose-restricted diet, p.Gln188Arg mutation and GALT enzyme activity influenced the clinical picture. Detection by newborn screening and commencement of diet in the first week of life were associated with a more favorable outcome. A homozygous p.Gln188Arg mutation, GALT enzyme activity of ≤ 1% and strict galactose restriction were associated with a less favorable outcome. Conclusion: This study describes the natural history of classic galactosemia based on the hitherto largest data set.

Published
2019

23. The natural history of classic galactosemia: Lessons from the GalNet registry

Author

Infectieziekten onderzoek3 (Bogaert), UMC Utrecht, Metabole ziekten patientenzorg, HAG Hart- Vaatziekten, Other research (not in main researchprogram), JC onderzoeksprogramma Cardiovasculaire Epidemiologie, AIOS Psychiatrie, Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., De Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., Berry, G. T., Infectieziekten onderzoek3 (Bogaert), UMC Utrecht, Metabole ziekten patientenzorg, HAG Hart- Vaatziekten, Other research (not in main researchprogram), JC onderzoeksprogramma Cardiovasculaire Epidemiologie, AIOS Psychiatrie, Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., De Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., and Berry, G. T.

Published
2019

24. The natural history of classic galactosemia: lessons from the GalNet registry

Author

Rubio-Gozalbo, ME, Haskovic, M, Bosch, AM, Burnyte, B, Coelho, AI, Cassiman, D, Couce, ML, Dawson, C, Demirbas, D, Derks, T, Eyskens, F, Forga, MT, Grunewald, S, Haberle, J, Hochuli, M, Hubert, A, Huidekoper, Hidde, Janeiro, P, Kotzka, J, Knerr, I, Labrune, P, Landau, YE, Langendonk, Janneke, Moeslinger, D, Mueller-Wieland, D, Murphy, E, Ounap, K, Ramadza, D, Rivera, IA, Scholl-Buergi, S, Stepien, KM, Thijs, A, Tran, C, Vara, R, Visser, G, Vos, Reinder, Vries, M, Waisbren, SE, Welsink-Karssies, MM, Wortmann, SB, Gautschi, M, Treacy, EP, Berry, GT, Rubio-Gozalbo, ME, Haskovic, M, Bosch, AM, Burnyte, B, Coelho, AI, Cassiman, D, Couce, ML, Dawson, C, Demirbas, D, Derks, T, Eyskens, F, Forga, MT, Grunewald, S, Haberle, J, Hochuli, M, Hubert, A, Huidekoper, Hidde, Janeiro, P, Kotzka, J, Knerr, I, Labrune, P, Landau, YE, Langendonk, Janneke, Moeslinger, D, Mueller-Wieland, D, Murphy, E, Ounap, K, Ramadza, D, Rivera, IA, Scholl-Buergi, S, Stepien, KM, Thijs, A, Tran, C, Vara, R, Visser, G, Vos, Reinder, Vries, M, Waisbren, SE, Welsink-Karssies, MM, Wortmann, SB, Gautschi, M, Treacy, EP, and Berry, GT

Published
2019

25. Developments in fuel hoses to meet changing environmental needs

Author

Vara, R. and Dunn, J.R.

Subjects
Tubing industry -- Research, Automobiles -- Fuel and fuel systems, Hose -- Research, Pipe industry -- Research, Business, Chemicals, plastics and rubber industries
Abstract

The automobile has evolved constantly since its invention. Early developments were aimed at improving comfort, safety and operating efficiency. Reduction in cost, made possible by mass production, made motor vehicles [...]

Published
1994

29. Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults

Author

Charif, M, Nasca, A, Thompson, K, Gerber, S, Makowski, C, Mazaheri, N, Bris, C, Goudenège, D, Legati, A, Maroofian, R, Shariati, G, Lamantea, E, Hopton, S, Ardissone, A, Moroni, I, Giannotta, M, Siegel, C, Strom, T, Prokisch, H, Vignal-Clermont, C, Derrien, S, Zanlonghi, X, Kaplan, J, Hamel, C, Leruez, S, Procaccio, V, Bonneau, D, Reynier, P, White, F, Hardy, S, Barbosa, I, Simpson, M, Vara, R, Trujillo, Y, Galehdari, H, Deshpande, C, Haack, T, Rozet, J, Taylor, R, Ghezzi, D, Amati-Bonneau, P, Lenaers, G, Charif, Majida, Nasca, Alessia, Thompson, Kyle, Gerber, Sylvie, Makowski, Christine, Mazaheri, Neda, Bris, Céline, Goudenège, David, Legati, Andrea, Maroofian, Reza, Shariati, Gholamreza, Lamantea, Eleonora, Hopton, Sila, Ardissone, Anna, Moroni, Isabella, Giannotta, Melania, Siegel, Corinna, Strom, Tim M., Prokisch, Holger, Vignal-Clermont, Catherine, Derrien, Sabine, Zanlonghi, Xavier, Kaplan, Josseline, Hamel, Christian P., Leruez, Stephanie, Procaccio, Vincent, Bonneau, Dominique, Reynier, Pascal, White, Frances E., Hardy, Steven A., Barbosa, Inês A., Simpson, Michael A., Vara, Roshni, Trujillo, Yaumara Perdomo, Galehdari, Hamind, Deshpande, Charu, Haack, Tobias B., Rozet, Jean-Michel, Taylor, Robert W., Ghezzi, Daniele, Amati-Bonneau, Patrizia, Lenaers, Guy, Charif, M, Nasca, A, Thompson, K, Gerber, S, Makowski, C, Mazaheri, N, Bris, C, Goudenège, D, Legati, A, Maroofian, R, Shariati, G, Lamantea, E, Hopton, S, Ardissone, A, Moroni, I, Giannotta, M, Siegel, C, Strom, T, Prokisch, H, Vignal-Clermont, C, Derrien, S, Zanlonghi, X, Kaplan, J, Hamel, C, Leruez, S, Procaccio, V, Bonneau, D, Reynier, P, White, F, Hardy, S, Barbosa, I, Simpson, M, Vara, R, Trujillo, Y, Galehdari, H, Deshpande, C, Haack, T, Rozet, J, Taylor, R, Ghezzi, D, Amati-Bonneau, P, Lenaers, G, Charif, Majida, Nasca, Alessia, Thompson, Kyle, Gerber, Sylvie, Makowski, Christine, Mazaheri, Neda, Bris, Céline, Goudenège, David, Legati, Andrea, Maroofian, Reza, Shariati, Gholamreza, Lamantea, Eleonora, Hopton, Sila, Ardissone, Anna, Moroni, Isabella, Giannotta, Melania, Siegel, Corinna, Strom, Tim M., Prokisch, Holger, Vignal-Clermont, Catherine, Derrien, Sabine, Zanlonghi, Xavier, Kaplan, Josseline, Hamel, Christian P., Leruez, Stephanie, Procaccio, Vincent, Bonneau, Dominique, Reynier, Pascal, White, Frances E., Hardy, Steven A., Barbosa, Inês A., Simpson, Michael A., Vara, Roshni, Trujillo, Yaumara Perdomo, Galehdari, Hamind, Deshpande, Charu, Haack, Tobias B., Rozet, Jean-Michel, Taylor, Robert W., Ghezzi, Daniele, Amati-Bonneau, Patrizia, and Lenaers, Guy

Abstract

Importance: Neurologic disorders with isolated symptoms or complex syndromes are relatively frequent among mitochondrial inherited diseases. Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies. Objective: To define the spectrum of clinical phenotypes associated with mutations in RTN4IP1 encoding a mitochondrial quinone oxidoreductase. Design, Setting, and Participants: This study involved 12 individuals from 11 families with severe central nervous system diseases and optic atrophy. Targeted and whole-exome sequencing were performed-at Hospital Angers (France), Institute of Neurology Milan (Italy), Imagine Institute Paris (France), Helmoltz Zentrum of Munich (Germany), and Beijing Genomics Institute (China)-to clarify the molecular diagnosis of patients. Each patient's neurologic, ophthalmologic, magnetic resonance imaging, and biochemical features were investigated. This study was conducted from May 1, 2014, to June 30, 2016. Main Outcomes and Measures: Recessive mutations in RTN4IP1 were identified. Clinical presentations ranged from isolated optic atrophy to severe encephalopathies. Results: Of the 12 individuals in the study, 6 (50%) were male and 6 (50%) were female. They ranged in age from 5 months to 32 years. Of the 11 families, 6 (5 of whom were consanguineous) had a member or members who presented isolated optic atrophy with the already reported p.Arg103His or the novel p.Ile362Phe, p.Met43Ile, and p.Tyr51Cys amino acid changes. The 5 other families had a member or members who presented severe neurologic syndromes with a common core of symptoms, including optic atrophy, seizure, intellectual disability, growth retardation, and elevated lactate levels. Additional clinical features of those affected were deafness, abnormalities onmagnetic resonance images of the brain, stridor, and abnormal electroencephalographic patterns, all of which eventually led to death before age 3 years. In these patients, novel and ver

Published
2018

30. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Author

Thompson, K., Majd, H., Dallabona, C., Reinson, K., King, M.S., Alston, C.L., He, L., Lodi, T., Jones, S.A., Fattal-Valevski, A., Fraenkel, N.D., Saada, A., Haham, A., Isohanni, P., Vara, R., Barbosa, I.A., Simpson, M.A., Deshpande, C., Puusepp, S., Bonnen, P.E., Rodenburg, R.J.T., Suomalainen, A., Õunap, K., Elpeleg, O., Ferrero, I., McFarland, R., Kunji, E.R., Taylor, R.W., Thompson, K., Majd, H., Dallabona, C., Reinson, K., King, M.S., Alston, C.L., He, L., Lodi, T., Jones, S.A., Fattal-Valevski, A., Fraenkel, N.D., Saada, A., Haham, A., Isohanni, P., Vara, R., Barbosa, I.A., Simpson, M.A., Deshpande, C., Puusepp, S., Bonnen, P.E., Rodenburg, R.J.T., Suomalainen, A., Õunap, K., Elpeleg, O., Ferrero, I., McFarland, R., Kunji, E.R., and Taylor, R.W.

Abstract

Contains fulltext : 171353.pdf (Publisher’s version ) (Open Access)

Published
2016

31. Production of l(+) and d(−) lactic acid isomers by Lactobacillus casei subsp. casei DSM 20011 and Lactobacillus coryniformis subsp. torquens DSM 20004 in continuous fermentation

Author

D. Fajner, Maddalena Rossi, González-Vara R. Antonio, Franco Magelli, Davide Pinelli, and Diego Matteuzzi

Subjects
L(+) and D(−) lactic acid isomers, Lactobacillus casei, biology, continuous fermentation, food and beverages, Chemostat, Lactobacillaceae, biology.organism_classification, Applied Microbiology and Biotechnology, Lactic acid, Dilution, chemistry.chemical_compound, Biochemistry, chemistry, Fermentation, Food science, Lactic acid fermentation, Bacteria, Biotechnology
Abstract

With the aim of producing l (+) and d (−) lactic acid to be employed in poly-lactic acid polymer production, for biomedical applications, the strains Lactobacillus casei subsp. casei DSM 20011 and Lactobacillus coryniformis subsp. torquens DSM 20004 were studied in a conventional chemostat mode using various dilution rates. The results obtained showed that the dilution rate influences the fermentation pattern, modifying various fermentation parameters. Nevertheless, the product and biomass yields remained constant and the ratio of the l (+) and d (−) isomers of lactic acid was not affected by the dilution rate. The optimal glucose concentration on inlet feed medium was also determined for the L. coryniformis fermentation.

Published
1996
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42. Self-effects of tea CO2 laser radiation in NH3

Author

Hernandez-Vara, R., Herreros Alcocer, J. M., González-Díaz, Pedro F., Hernandez-Vara, R., Herreros Alcocer, J. M., and González-Díaz, Pedro F.

Abstract

Self-focusing and self-defocusing effects of CO2 laser radiation in ammonia gas for 10 R(14) and 9 R(16) laser lines are reported. Results are in agreement with data provided by classi cal dispersion theory. Effects originating from the addition of hexane as a buffer gas are discussed. © 1990.

Published
1990

47. A novel vascular tumour characterized by coexisting HRAS and GNAQ activating mutations.

Author

Castel, P., Bagué, S., Granell, E., Guerrero Vara, R., Baselga, J., and Baselga, E.

Subjects
TUMORS, CANCER
Abstract

The article presents a study that determines the condition and symptoms of a novel vascular tumour characterized by HRAS and GNAQ transforming proteins. It offers details of the method of the study that observes a five-year-old girl with vascular malformations. It outlines the result which indicates that genomic profiling of vascular anomalies is relevant in addressing the challenges of diagnosing and helping determine driver mutations.

Published
2019
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48. Infrared spectroscopic study of Fe3+ substituted yttrium iron garnet.

Author

Modi, K. B., Vara, R. P., Vora, H. G., Chhantbar, M. C., and Joshi, H. H.

Subjects
YTTRIUM iron garnet, IRON, X-ray diffraction, DIFFRACTION patterns, FERRITES, MAGNETIZATION
Abstract

Discusses an infrared spectroscopic study of iron substituted yttrium iron garnet. Recording of the powder X-ray diffraction patterns for all the composition; Expression of the cation distribution determined through magnetization measurement at 80 K; Argument that the strength of magnetic interaction increases with increasing dopant concentration (x).

Published
2004
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