300 results on '"Bonafé, Luisa"'
Search Results
2. Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia
3. Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator
4. Inborn Errors of Metabolism in Adults: Clues for Nutritional Management in ICU
5. The Bone in Genetic and Metabolic Diseases: A Practical Approach
6. Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management
7. Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann–Pick type B and SQSTM1-associated Paget’s disease in the same individual
8. Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia
9. Current Care and Investigational Therapies in Achondroplasia
10. Inborn Errors of Metabolism in Adults: Clues for Nutritional Management in ICU
11. The Bone in Genetic and Metabolic Diseases: A Practical Approach
12. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
13. Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis
14. Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: A case report
15. Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome
16. Mitochondrial tRNALeu(UUR) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study
17. MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type
18. Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria
19. Early neurological impairment and severe anemia in a newborn with Pearson syndrome
20. Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome
21. Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy
22. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals
23. Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia
24. New topics in the skeletal dysplasias
25. Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)
26. Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features
27. Type I Hyperprolinemia: Genotype/Phenotype Correlations
28. An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype–Phenotype Study
29. Lethal Skeletal Dysplasia in Mice and Humans Lacking the Golgin GMAP-210
30. Disease-Causing Mutations Improving the Branch Site and Polypyrimidine Tract: Pseudoexon Activation of LINE-2 and Antisense Alu Lacking the Poly(T)-Tail
31. Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy
32. Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
33. Diagnosis of atelosteogenesis type II after a routine echography at 12 weeksʼ pregnancy
34. Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures
35. Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report
36. Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?
37. Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann–Pick type B and SQSTM1-associated Paget’s disease in the same individual
38. Lungenbeteiligung bei erwachsenen Patienten mit angeborenen Stoffwechselerkrankungen
39. NANS-mediated synthesis of sialic acid is required for brain and skeletal development
40. Erratum: Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development
41. Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism
42. Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach
43. Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease
44. Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease
45. NANS-mediated synthesis of sialic acid is required for brain and skeletal development
46. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
47. Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta
48. NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina
49. Mutations inLONP1, a mitochondrial matrix protease, cause CODAS syndrome
50. When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?
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