Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency

(2013) N. Cornelius et al.   HUMAN MOLECULAR GENETICS

Muskuläre Schwäche und beginnendes Leberversagen bei einem 22-jährigen Mann

(2013) D. Scheicht et al.   INTERNIST

Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency

(2013) Jianying Xi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Surprising causes of C5-carnitine false positive results in newborn screening

(2013) François Boemer et al.   MOLECULAR GENETICS AND METABOLISM

Cyclic vomiting syndrome masking a fatal metabolic disease

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

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

(2012) N. Cornelius et al.   HUMAN MOLECULAR GENETICS

Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: Evaluation by in vitro probe acylcarnitine assay

(2012) Seiji Yamaguchi et al.   MOLECULAR GENETICS AND METABOLISM

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

(2012) Annet M Bosch et al.   Orphanet Journal of Rare Diseases

Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment

(2011) M. Rosa et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

A Case of Late Onset Riboflavin-responsive Multiple Acyl-CoA Dehydrogenase Deficiency Manifesting as Recurrent Rhabdomyolysis and Acute Renal Failure

(2011) Rumiko Izumi et al.   INTERNAL MEDICINE

Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A

(2011) Zhi-Qiang Wang et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Subacute myopathy in a mature patient due to multiple acyl-coenzyme a dehydrogenase deficiency

(2011) Pierre Kaminsky et al.   MUSCLE & NERVE

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect

(2011) Maria Sofia Cotelli et al.   NEUROLOGICAL SCIENCES

Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase

(2011) Fuminobu Sugai et al.   NEUROMUSCULAR DISORDERS

High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy

(2010) M-Y Lan et al.   CLINICAL GENETICS

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

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

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

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

Identification and Comparative Functional Characterization of a New Human Riboflavin Transporter hRFT3 Expressed in the Brain

(2010) Yoshiaki Yao et al.   JOURNAL OF NUTRITION

Glutaric Aciduria Type 2, Late Onset Type in Thai Siblings With Myopathy

(2010) Pornswan Wasant et al.   PEDIATRIC NEUROLOGY

Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

(2009) Kiyoko Ishii et al.   BRAIN & DEVELOPMENT

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

(2009) Lap-Kay Law et al.   CLINICA CHIMICA ACTA

Identification and Functional Characterization of Rat Riboflavin Transporter 2

(2009) S. Yamamoto et al.   JOURNAL OF BIOCHEMISTRY

Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency

(2009) Laura M. Pollard et al.   JOURNAL OF CHILD NEUROLOGY

Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations

(2009) B. Wen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

(2009) Wen-Chen Liang et al.   NEUROMUSCULAR DISORDERS

Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1

(2008) Atsushi Yonezawa et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Role of Flavinylation in a Mild Variant of Multiple Acyl-CoA Dehydrogenation Deficiency

(2008) Bárbara J. Henriques et al.   JOURNAL OF BIOLOGICAL CHEMISTRY