Improvement of regressive autism symptoms in a child withTMLHEdeficiency following carnitine supplementation

The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile

(2014) Ali Rashidi-Nezhad et al.   BMC Medical Genetics

Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype

(2013) K. Shibbani et al.   CLINICAL GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

(2012) Pilar L Magoulas et al.   Orphanet Journal of Rare Diseases

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

(2012) P. B. S. Celestino-Soper et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

(2012) C Nava et al.   Translational Psychiatry

Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis

(2011) D A Rossignol et al.   MOLECULAR PSYCHIATRY

Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

(2010) Ayman W El-Hattab et al.   GENETICS IN MEDICINE

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE