[HTML][HTML] Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity
J Farris, B Calhoun, MS Alam, S Lee… - PLoS computational …, 2020 - journals.plos.org
Monogenetic diseases provide unique opportunity for studying complex, clinical states that
underlie neurological severity. Loss of glycine decarboxylase (GLDC) can severely impact …
underlie neurological severity. Loss of glycine decarboxylase (GLDC) can severely impact …
[HTML][HTML] Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature
MT Huynh, E Landais, JM De Sainte Agathe… - Molecular Genetics and …, 2023 - Elsevier
Abstract Glycine encephalopathy (MIM# 605899) is an autosomal recessive inborn error of
metabolism caused by pathogenic variants in three genes GLDC, AMT, GCSH encoding …
metabolism caused by pathogenic variants in three genes GLDC, AMT, GCSH encoding …
Hiperglicinemia não cetótica em uso de dieta cetogênica: relato de caso
K da Silva Freitas, VNC Guimarães… - Revista Eletrônica …, 2024 - acervomais.com.br
Objetivo: Relatar um estudo de caso sobre hiperglicinemia não cetótica e o tratamento
nutricional prescrito com dieta cetogênica. Detalhamento do caso: Paciente do sexo …
nutricional prescrito com dieta cetogênica. Detalhamento do caso: Paciente do sexo …
[BOOK][B] Genotype-Phenotype Predictions in Rare Genetic Diseases: The Relationship Between Glycine Decarboxylase Mutations and Non-Ketotic Hyperglycinemia …
JD Farris - 2021 - search.proquest.com
There are over 7000 known rare diseases, many of which have a genetic etiology. While
each individual disease is rare, approximately 1 in 10 people suffer from a rare disease. The …
each individual disease is rare, approximately 1 in 10 people suffer from a rare disease. The …