Literature DB >> 22976761

Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD).

Michael J Bennett.   

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Year:  2012        PMID： 22976761     DOI： 10.1007/s10545-012-9519-5

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  11 in total

1.  Multiple acyl-coenzyme A dehydrogenation disorders (MAD) responsive to riboflavin: biochemical studies in fibroblasts.

Authors:  V Roettger; T Marshall; B Amendt; W J Rhead
Journal:  Prog Clin Biol Res       Date:  1992

2.  C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects.

Authors:  N Gregersen; H Wintzensen; S K Christensen; M F Christensen; N J Brandt; K Rasmussen
Journal:  Pediatr Res       Date:  1982-10       Impact factor: 3.756

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

Authors:  Subrahmanian Dipti; Anne-Marie Childs; John H Livingston; A K Aggarwal; Mike Miller; Chris Williams; Yanick J Crow
Journal:  Brain Dev       Date:  2004-12-15       Impact factor: 1.961

4.  Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome.

Authors:  Geetha Anand; Nadeem Hasan; Sathiya Jayapal; Zilla Huma; Tariq Ali; Jeremy Hull; Edward Blair; Tony McShane; Sandeep Jayawant
Journal:  Dev Med Child Neurol       Date:  2011-11-18       Impact factor: 5.449

5.  Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.

Authors:  S DiDonato; C Gellera; D Peluchetti; G Uziel; A Antonelli; G Lus; M Rimoldi
Journal:  Ann Neurol       Date:  1989-05       Impact factor: 10.422

6.  Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset.

Authors:  M de Visser; H R Scholte; R B Schutgens; P A Bolhuis; I E Luyt-Houwen; M H Vaandrager-Verduin; H A Veder; P L Oey
Journal:  Neurology       Date:  1986-03       Impact factor: 9.910

7.  The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.

Authors:  B A Amendt; W J Rhead
Journal:  J Clin Invest       Date:  1986-07       Impact factor: 14.808

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

Authors:  Peter Green; Matthew Wiseman; Yanick J Crow; Henry Houlden; Shelley Riphagen; Jean-Pierre Lin; F Lucy Raymond; Anne-Marie Childs; Eamonn Sheridan; Sian Edwards; Dragana J Josifova
Journal:  Am J Hum Genet       Date:  2010-03-04       Impact factor: 11.025

9.  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.

Authors:  Annet M Bosch; Nico G G M Abeling; Lodewijk Ijlst; Hennie Knoester; W Ludo van der Pol; Alida E M Stroomer; Ronald J Wanders; Gepke Visser; Frits A Wijburg; Marinus Duran; Hans R Waterham
Journal:  J Inherit Metab Dis       Date:  2010-11-26       Impact factor: 4.982

10.  Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

Authors:  Tobias B Haack; Christine Makowski; Yoshiaki Yao; Elisabeth Graf; Maja Hempel; Thomas Wieland; Ulrike Tauer; Uwe Ahting; Johannes A Mayr; Peter Freisinger; Hiroki Yoshimatsu; Ken Inui; Tim M Strom; Thomas Meitinger; Atsushi Yonezawa; Holger Prokisch
Journal:  J Inherit Metab Dis       Date:  2012-08-03       Impact factor: 4.982
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  1 in total

1.  Bacterial Production, Characterization and Protein Modeling of a Novel Monofuctional Isoform of FAD Synthase in Humans: An Emergency Protein?

Authors:  Piero Leone; Michele Galluccio; Alberto Barbiroli; Ivano Eberini; Maria Tolomeo; Flavia Vrenna; Elisabetta Gianazza; Stefania Iametti; Francesco Bonomi; Cesare Indiveri; Maria Barile
Journal:  Molecules       Date:  2018-01-06       Impact factor: 4.411
  1 in total

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