Results 121 to 130 of about 14,220 (236)

Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation

The Turkish Journal of Pediatrics, 2013
Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most frequent inborn error of vitamin B12metabolism. The clinical phenotype includes systemic symptoms and neurological decompensation.
Mustafa Kılıç, Rıza Köksal Özgül, Ali Dursun, Ayşegül Tokatlı, Hatice Serap Kalkanoğlu-Sivri, Banu Anlar, Brian Fowler, Turgay Coşkun   +7 more
doaj  

Recognition, investigation and management of mitochondrial disease [PDF]

, 2017
Mitochondria are dynamic organelles present in virtually all human cells that are needed for a multitude of cellular functions, including energy production, control of cell apoptosis and numerous biochemical catabolic and synthetic pathways that are ...
Davison, JE, Rahman, S
core   +1 more source

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

BMC Medical Genetics, 2007
Background Mutations in methylmalonyl-CoA mutase cause methylmalonic acidemia, a common organic aciduria. Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation.
Kaestner Klaus H, Allen Robert, Stabler Sally, Tsai Matthew, Fu Hong, Sloan Jennifer, Chandler Randy J, Kazazian Haig H, Venditti Charles P   +8 more
doaj   +1 more source

Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations [PDF]

, 2002
Heidi Peters, Mikhael Nefedov, Lai Wah Lee, José E. Abdenur, Néstor Chamoles, Stephen G. Kahler, Panayiotis A. Ioannou   +6 more
openalex   +1 more source

Effect of 2-Methylcitrate on Citrate Metabolism: Implications for the Management of Patients with Propionic acidemia and Methylmalonic aciduria [PDF]

, 1975
Surinder Cheema‐Dhadli, Clifford C. Leznoff, Mitchell L. Halperin   +2 more
openalex   +1 more source

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity [PDF]

, 2017
Background: Without neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder.
Bodamer, Olaf, Boy, Nikolas, Brackmann, Renate, Harting, Inga, Heringer, Jana, Kölker, Stefan, Seitz, Angelika   +6 more
core   +1 more source

Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria

Molecular Genetics and Metabolism Reports, 2016
Background: The effect of long-term N-carbamylglutamate (NCG) treatment on the rate and severity of decompensations due to propionic aciduria (PA) and methylmalonic aciduria (MMA) is unknown.
Alberto Burlina, Chiara Cazzorla, Elisa Zanonato, Emanuela Viggiano, Ilaria Fasan, Giulia Polo   +5 more
doaj   +1 more source

Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause [PDF]

, 2019
Lina Sobhi Abdrabo, David Watkins, Sophie Ran Wang, Joël Lafond‐Lapalme, Jean‐Baptiste Rivière, David S. Rosenblatt   +5 more
openalex   +1 more source

Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review

Metabolism Open
Background: Holocarboxylase Synthetase Deficiency (HCSD) is an uncommon autosomal recessive genetic disorder that manifests with symptoms such as metabolic acidosis, lethargy, hypotonia, seizures, and persistent rashes, typically emerging during infancy.
Ye Ren, Hongxing Dang, Yueqiang Fu, Chengjun Liu, Jing Li, Jinhua Cai   +5 more
doaj   +1 more source

Vitamin B12 Deficiency with Pseudothrombotic Microangiopathy and Thrombotic Thrombocytopenic Purpura: Similarities and Differences [PDF]

, 2020
Buess, Charles, Germann, Alexander, Maloney, Eamon, Mohammed, Alaeldin   +3 more
core   +2 more sources