Choline-related-inherited metabolic diseases-A mini review

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

(2017) Grace McMacken et al.   JOURNAL OF NEUROLOGY

The association of serum choline with linear growth failure in young children from rural Malawi

(2016) Richard D Semba et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

(2016) Stéphanie Bauché et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CADmutations and uridine-responsive epileptic encephalopathy

(2016) Johannes Koch et al.   BRAIN

Gut Microbial Metabolite TMAO Enhances Platelet Hyperreactivity and Thrombosis Risk

(2016) Weifei Zhu et al.   CELL

Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine

(2016) John A. Duley et al.   MOLECULAR GENETICS AND METABOLISM

A DNA methylation biomarker of alcohol consumption

(2016) C Liu et al.   MOLECULAR PSYCHIATRY

Mechanism of choline deficiency and membrane alteration in postural orthostatic tachycardia syndrome primary skin fibroblasts

(2015) Laila C. Schenkel et al.   FASEB JOURNAL

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

(2014) Guilherme L. Yamamoto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

(2014) Julie Hoover-Fong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease

(2014) F. Payne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The choline transporter-like family SLC44: Properties and roles in human diseases

(2013) Elisabeth Traiffort et al.   MOLECULAR ASPECTS OF MEDICINE

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

(2013) Sérgio B Sousa et al.   NATURE GENETICS

Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

(2012) Katy E.S. Barwick et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

(2011) Satomi Mitsuhashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Choline: an essential nutrient for public health

(2009) Steven H Zeisel et al.   NUTRITION REVIEWS

Defining the Importance of Phosphatidylserine Synthase-1 (PSS1)

(2008) Devi Arikketh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Thematic Review Series: Glycerolipids.Phosphatidylcholine and choline homeostasis

(2008) Zhaoyu Li et al.   JOURNAL OF LIPID RESEARCH

Variant between CPT1B and CHKB associated with susceptibility to narcolepsy

(2008) Taku Miyagawa et al.   NATURE GENETICS