Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease
about
Brown-Vialetto-Van Laere syndromeBrown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatmentEffect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2)Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophiesClinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.Differentiation-dependent regulation of intestinal vitamin B(2) uptake: studies utilizing human-derived intestinal epithelial Caco-2 cells and native rat intestine.A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance.Spinal muscular atrophy: clinical classification and disease heterogeneity.Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature.Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin.Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD).Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome.Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome.
P2860
Q21202897-EF343262-3F72-4E05-AFC1-EDEF8AE830E0Q24301760-177C2FD4-FB04-4645-B65B-E7397DC69706Q24633696-24D9DBEE-602B-4B95-87F7-214D1DAC3AEBQ28117946-8CDE804F-24D0-4B05-9B18-8E9DB778688CQ30444380-33EA14DE-FF2D-447B-AA40-591A9ACAABB0Q34399213-F4520154-73E7-47F6-A756-DB71F757DC03Q34464127-C93FBABA-643A-406D-B509-B9D576A035FDQ36454005-8B3D8AAE-4892-4AFB-B379-DAEF974DAED3Q36764336-309EEF4E-8CEF-4660-AD0C-3FFE5BCAD2F6Q36786540-50AA2B25-EB4B-46ED-98CA-D7A5A6F3648BQ36924707-091D7C84-FEF3-4B37-9C35-AA83B57B7BDFQ37311575-B8964FBF-AA3F-446B-9E85-50CB76D1A0D2Q38042727-194CFEA7-1B4A-429C-8E11-95D94B1C76EBQ39100335-7D5DBC94-9AE1-4301-88BC-B1AEBA256839Q50351712-5E12B1AA-D2F7-4CC3-A4ED-1835ABA85495Q50429065-DE9BE672-9A21-4C53-9889-A123E5CCE4BCQ50430326-DDE25191-1309-4E6A-BC9B-89124FA87509Q50432448-555F29DB-57A7-4F5D-B8FB-1E86CA369BBCQ50436201-25F6437D-7417-43AD-8C78-292BCAE200F2
P2860
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease
description
2005 nî lūn-bûn
@nan
2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Brown-Vialetto-Van Laere syndr ...... erlap with Fazio-Londe disease
@ast
Brown-Vialetto-Van Laere syndr ...... erlap with Fazio-Londe disease
@en
Brown-Vialetto-Van Laere syndr ...... erlap with Fazio-Londe disease
@nl
type
label
Brown-Vialetto-Van Laere syndr ...... erlap with Fazio-Londe disease
@ast
Brown-Vialetto-Van Laere syndr ...... erlap with Fazio-Londe disease
@en
Brown-Vialetto-Van Laere syndr ...... erlap with Fazio-Londe disease
@nl
prefLabel
Brown-Vialetto-Van Laere syndr ...... erlap with Fazio-Londe disease
@ast
Brown-Vialetto-Van Laere syndr ...... erlap with Fazio-Londe disease
@en
Brown-Vialetto-Van Laere syndr ...... erlap with Fazio-Londe disease
@nl
P2093
P1476
Brown-Vialetto-Van Laere syndr ...... erlap with Fazio-Londe disease
@en
P2093
A K Aggarwal
Anne-Marie Childs
Chris Williams
John H Livingston
Mike Miller
Subrahmanian Dipti
P356
10.1016/J.BRAINDEV.2004.10.003
P407
P577
2005-09-01T00:00:00Z