Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

(2017) Signe Mosegaard et al.   MOLECULAR GENETICS AND METABOLISM

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

(2016) Rikke K.J. Olsen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders

(2016) Karen van Eunen et al.   BMC BIOLOGY

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

(2016) Manuel Schiff et al.   NEW ENGLAND JOURNAL OF MEDICINE

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

(2015) Eugene F. Diekman et al.   GENETICS IN MEDICINE

Preferred Reporting Items for a Systematic Review and Meta-analysis of Individual Participant Data

(2015) Lesley A. Stewart et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Favorable Outcome After Physiologic Dose of Sodium-D,L-3-Hydroxybutyrate in Severe MADD

(2014) W. J. Van Rijt et al.   PEDIATRICS

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

(2012) Janel O. Johnson et al.   BRAIN

Cyclic vomiting syndrome masking a fatal metabolic disease

(2012) Marianne Fitzgerald et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

(2012) Tobias B. Haack et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A polymorphic position in electron transfer flavoprotein modulates kinetic stability as evidenced by thermal stress

(2011) Bárbara J. Henriques et al.   FEBS LETTERS

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

(2011) David M S McHugh et al.   GENETICS IN MEDICINE

Role of Postmortem Genetic Testing Demonstrated in a Case of Glutaric Aciduria Type II

(2010) Han-Chih Hencher Lee et al.   DIAGNOSTIC MOLECULAR PATHOLOGY

A validated disease severity scoring system for adults with type 1 Gaucher disease

(2010) Neal J Weinreb et al.   GENETICS IN MEDICINE

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

(2010) Gladys Ho et al.   HUMAN MUTATION

In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2

(2010) Mitsuru Endo et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

(2010) Ronald J. A. Wanders et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2010) Annet M. Bosch et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A validated disease severity scoring system for Fabry disease

(2009) Edward H. Giannini et al.   MOLECULAR GENETICS AND METABOLISM

A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease

(2008) M. Di Rocco et al.   HAEMATOLOGICA

Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2

(2008) Yuka Yotsumoto et al.   MOLECULAR GENETICS AND METABOLISM