The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

(2016) Kendra J. Bjoraker et al.   JOURNAL OF PEDIATRICS

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

(2015) Michael A. Swanson et al.   ANNALS OF NEUROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Large-scale TUBB4A mutational screening in isolated dystonia and controls

(2015) Michael Zech et al.   PARKINSONISM & RELATED DISORDERS

Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene

(2014) J. Nicholas Brenton et al.   PEDIATRIC NEUROLOGY

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

(2013) Peter R. Baker et al.   BRAIN

The chaperone role of the pyridoxal 5′-phosphate and its implications for rare diseases involving B6-dependent enzymes

(2013) Barbara Cellini et al.   CLINICAL BIOCHEMISTRY

Structure of the Homodimeric Glycine Decarboxylase P-protein fromSynechocystissp. PCC 6803 Suggests a Mechanism for Redox Regulation

(2013) Dirk Hasse et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Treatment of a methylmalonyl-CoA mutase stopcodon mutation

(2012) Nicole E. Buck et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia

(2012) Rocío Sánchez-Alcudia et al.   HUMAN MUTATION

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

(2011) Ayumi Narisawa et al.   HUMAN MOLECULAR GENETICS

Prediction of long-term outcome in glycine encephalopathy: a clinical survey

(2011) Julia B. Hennermann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Rescue of Cystathionine β-Synthase (CBS) Mutants with Chemical Chaperones

(2010) Tomas Majtan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia

(2008) A. Boneh et al.   MOLECULAR GENETICS AND METABOLISM