Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

(2015) Marcello Niceta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency

(2015) Mitsuaki Moriyama et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

(2015) Fanny Kortüm et al.   NATURE GENETICS

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis and hypertriglyceridemia

(2014) Mugdha Joshi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Inborn errors of cytoplasmic triglyceride metabolism

(2014) Jiang Wei Wu et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mutations in ZBTB20 cause Primrose syndrome

(2014) Viviana Cordeddu et al.   NATURE GENETICS

Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1

(2012) Lina Basel-Vanagaite et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

(2012) Miao-Xin Li et al.   NUCLEIC ACIDS RESEARCH

A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): A clinical, molecular, and functional study

(2011) Giuseppe Fiermonte et al.   MOLECULAR GENETICS AND METABOLISM

Neonatal intrahepatic cholestasis caused by citrin deficiency: Clinical and laboratory investigation of 13 subjects in mainland of China

(2009) Y.-Z. Song et al.   DIGESTIVE AND LIVER DISEASE

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease

(2008) Michiharu Komatsu et al.   JOURNAL OF HEPATOLOGY

Citrin deficiency, a perplexing global disorder

(2008) David Dimmock et al.   MOLECULAR GENETICS AND METABOLISM