Brown-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 treatment - Wikidata - wikimedia - TriplyDB

Brown-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 treatment

Brown-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 treatment

http://www.wikidata.org/entity/Q24633696

about

The human flavoproteome Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2)Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biology Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT2) in intestinal epithelial cells.Intestinal absorption of water-soluble vitamins in health and disease Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.Identification and characterization of the minimal 5'-regulatory region of the human riboflavin transporter-3 (SLC52A3) in intestinal epithelial cells.Molecular Mechanisms Mediating the Adaptive Regulation of Intestinal Riboflavin Uptake Process Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.Conditional (intestinal-specific) knockout of the riboflavin transporter-3 (RFVT-3) impairs riboflavin absorption.Differentiation-dependent regulation of intestinal vitamin B(2) uptake: studies utilizing human-derived intestinal epithelial Caco-2 cells and native rat intestine.Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice.Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.Riboflavin and health: A review of recent human research.Riboflavin transport and metabolism in humans.Identification and characterization of 5'-flanking region of the human riboflavin transporter 1 gene (SLC52A1).Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature.Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases.Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome.Molecular and functional characterization of riboflavin specific transport system in rat brain capillary endothelial cells.Fazio Londe syndrome: A treatable disorder Seasonal pasture myopathy/atypical myopathy in North America associated with ingestion of hypoglycin A within seeds of the box elder tree.Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients.Role of MicroRNA-423-5p in posttranscriptional regulation of the intestinal riboflavin transporter-3.Structure/functional aspects of the human riboflavin transporter-3 (SLC52A3): role of the predicted glycosylation and substrate-interacting sites.Dietary Reference Values for riboflavin Bacterial Production, Characterization and Protein Modeling of a Novel Monofuctional Isoform of FAD Synthase in Humans: An Emergency Protein?

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Brown-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 treatment

http://www.wikidata.org/entity/Q24633696

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2011 nî lūn-bûn

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2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2011 թվականի փետրվարին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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Alida E M Stroomer

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Frits A Wijburg

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Hennie Knoester

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Lodewijk Ijlst

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Marinus Duran

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Nico G G M Abeling

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Ronald J Wanders

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W Ludo van der Pol

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P2860

Brown-Vialetto-Van Laere syndrome

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54

Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Identification and functional characterization of rat riboflavin transporter 2

Organic aciduria in the riboflavin-deficient rat

Riboflavin (vitamin B-2) and health.

Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders.

D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).

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