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949 results on '"Blau, N"'

1. CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers.

Author

Wong, S.S., Yuen, L.Y., Kan, E., Blau, N., Rodenburg, R.J., Lam, C.W., Wong, V.C., Mochel, F., Wevers, R.A., Fung, C.W., Wong, S.S., Yuen, L.Y., Kan, E., Blau, N., Rodenburg, R.J., Lam, C.W., Wong, V.C., Mochel, F., Wevers, R.A., and Fung, C.W.

Abstract

Item does not contain fulltext, With the rapid advancement of medical technologies in genomic and molecular medicine, the number of treatable neurometabolic diseases is quickly expanding. Spastic paraplegia 56 (SPG56), one of the severe autosomal recessive forms of neurodegenerative disorders caused by pathogenic variants in the CYP2U1 gene, has no reported specific targeted treatment yet. Here we report 2 Chinese brothers with CYP2U1 bi-allelic pathogenic variants with cerebral folate deficiency who were treated for over a decade with folinic acid supplement. Patients have remained stable under therapy.

Published
2024

2. Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.

Author

Boer, L. de, Cambi, A., Verhagen, L.M., Haas, P. de, Karnebeek, C.D. van, Blau, N., Ferreira, C.R., Boer, L. de, Cambi, A., Verhagen, L.M., Haas, P. de, Karnebeek, C.D. van, Blau, N., and Ferreira, C.R.

Abstract

Item does not contain fulltext, Immunological problems are increasingly acknowledged manifestations in many inherited metabolic diseases (IMDs), ranging from exaggerated inflammation, autoimmunity and abnormal cell counts to recurrent microbial infections. A subgroup of IMDs, the congenital disorders of glycosylation (CDG), includes CDG types that are even classified as primary immunodeficiencies. Here, we reviewed the list of metabolic disorders reported to be associated with various immunological defects and identified 171 IMDs accompanied by immunological manifestations. Most IMDs are accompanied by immune dysfunctions of which immunodeficiency and infections, innate immune defects, and autoimmunity are the most common abnormalities reported in 144/171 (84%), 44/171 (26%) and 33/171 (19%) of IMDs with immune system involvement, respectively, followed by autoinflammation 17/171 (10%). This article belongs to a series aiming at creating and maintaining a comprehensive list of clinical and metabolic differential diagnoses according to organ system involvement.

Published
2023

4. Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes

Author

Garanto, A., Ferreira, C.R., Boon, C.J.F., Karnebeek, C.D.M. van, and Blau, N.

Subjects
genetic structures, Ophthalmologic, Endocrinology, Diabetes and Metabolism, Retinal Degeneration, Vision Disorders, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Inborn errors of metabolism, Eye, Biochemistry, Ocular phenotypes, eye diseases, Retina, Endocrinology, Phenotype, Metabolic Diseases, Inherited metabolic disorders, Genetics, Humans, Optic atrophy, IEMbase, Molecular Biology
Abstract

Contains fulltext : 248205.pdf (Publisher’s version ) (Open Access) Ocular manifestations are observed in approximately one third of all inherited metabolic disorders (IMDs). Although ocular involvement is not life-threatening, it can result in severe vision loss, thereby leading to an additional burden for the patient. Retinal degeneration with or without optic atrophy is the most frequent phenotype, followed by oculomotor problems, involvement of the cornea and lens, and refractive errors. These phenotypes can provide valuable clues that contribute to its diagnosis. In this issue we found 577 relevant IMDs leading to ophthalmologic manifestations. This article is the seventh of a series attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.

Published
2022
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11. Phenylketonuria

Author

van Spronsen FJ, Blau, N, Harding, C, Burlina, Alberto, Longo, N, and Bosch, Am.

Published
2021

19. Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform

Author

Klinke G, Richter S, Monostori P, Schmidt-Mader B, Garcia-Cazorla A, Artuch-Iriberri R, Christ S, Opladen T, Hoffmann GF, Blau N, and Okun JG

Subjects
inherited metabolic diseases, inborn errors of metabolism, liquid chromatography coupled to tandem mass spectrometry, targeted metabolomics, reference ranges, cerebrospinal fluid
Abstract

BACKGROUND: Laboratory investigations of cerebrospinal fluid (CSF) are essential when suspecting an inborn error of metabolism (IEM) involving neurological features. Available tests are currently performed on different analytical platforms, requiring a large sample volume and long turnaround time, which often delays timely diagnosis. Therefore, it would be preferable to have an "one-instrument" targeted multi-metabolite approach. METHOD: A liquid chromatography-tandem mass spectrometry (LC-MS/MS) platform, based on two different methods for analysing 38 metabolites using positive and negative electrospray ionisation modes, was established. To allow for platform extension, both methods were designed to use the same CSF sample preparation procedure and to be run on the same separation column (ACE C18-PFP). RESULTS: Assessment of the LC-MS/MS platform methods was first made by analytical validation, followed by the establishment of literature-based CSF cut-off values and reference ranges, and by the measurement of available samples obtained from patients with confirmed diagnoses of aromatic l-amino acid decarboxylase deficiency, guanidinoacetate methyltransferase deficiency, ornithine aminotransferase deficiency, cerebral folate deficiency and methylenetetrahydrofolate reductase deficiency. CONCLUSION: An extendable targeted LC-MS/MS platform was developed for the analysis of multiple metabolites in CSF, thereby distinguishing samples from patients with IEM from non-IEM samples. Reference concentrations for several biomarkers in CSF are provided for the first time. By measurement on a single analytical platform, less sample volume is required (200 µL), diagnostic results are obtained faster, and preanalytical issues are reduced. SYNOPSIS: LC-MS/MS platform for CSF analysis consisting of two differentially designed methods.

Published
2020

21. The first European guidelines on phenylketonuria: Usefulness and implications for BH(4) responsiveness testing

Author

Evers, R.A.F., Wegberg, A.M.J. van, Anjema, K., Lubout, C.M.A., Dam, E. van, Vliet, Danique van, Blau, N., Spronsen, F.J. van, Evers, R.A.F., Wegberg, A.M.J. van, Anjema, K., Lubout, C.M.A., Dam, E. van, Vliet, Danique van, Blau, N., and Spronsen, F.J. van

Abstract

Contains fulltext : 220018.pdf (Publisher’s version ) (Closed access), OBJECTIVE: This study aimed to investigate and improve the usefulness of the 48-hour BH(4) loading test and to assess genotype for BH(4) responsiveness prediction, using the new definition of BH(4) responsiveness from the European guidelines, as well as an amended definition. METHOD: Applying the definition of the European guidelines (≥100% increase in natural protein tolerance) and an amended definition (≥100% increase in natural protein tolerance or tolerating a safe natural protein intake) to a previous dataset, we first assessed the positive predictive value (PPV) of the 48-hour BH(4) loading test using a cutoff value of 30%. Then, we tried to improve this PPV by using different cutoff values and separate time points. Last, using the BIOPKU database, we compared predicted BH(4) responsiveness (according to genotype) and genotypic phenotype values (GPVs) in BH(4) -responsive and BH(4) -unresponsive patients. RESULTS: The PPV of the 48-hour loading test was 50.0% using the definition of the European guidelines, and 69.4% when applying the amended definition of BH(4) responsiveness. Higher cutoff values led to a higher PPV, but resulted in an increase in false-negative tests. Parameters for genotype overlapped between BH(4) -responsive and BH(4) -unresponsive patients, although BH(4) responsiveness was not observed in patients with a GPV below 2.4. CONCLUSION: The 48-hour BH(4) loading test is not as useful as previously considered and cannot be improved easily, whereas genotype seems mainly helpful in excluding BH(4) responsiveness. Overall, the definition of BH(4) responsiveness and BH(4) responsiveness testing require further attention.

Published
2020

45. Homocarnosinosis: A historical update and findings in the SPG11 gene

Author

Sjaastad, O, Blau, N, Rydning, S L, Peters, V, Rødningen, O, Stray-Pedersen, A, Krossnes, B, Tallaksen, C, Koht, J, University of Zurich, and Koht, J

Subjects
2728 Neurology (clinical), Neurology, 10036 Medical Clinic, 2808 Neurology, Clinical Neurology, 610 Medicine & health, General Medicine
Published
2018

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