Results 91 to 100 of about 12,046 (150)

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

Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency [PDF]

, 2020
National Cancer Institute
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

Methylmalonic Aciduria and Homocystinuria, cblC Type [PDF]

, 2020
National Cancer Institute
openalex   +1 more source

Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture [PDF]

, 2006
Guy Touati, Vassili Valayannopoulos, Karine Mention, Pascale de Lonlay, Philippe Jouvet, Eliane Depondt, Murielle Assoun, J.C. Souberbielle, Daniel Rabier, H. Ogier de Baulny, Jean Marie Saudubray   +10 more
openalex   +1 more source

395 Severe neurological symptoms in a 7.5-month-old girl with megaloblastic anaemia and methylmalonic aciduria – case report [PDF]

, 2021
Agnieszka Słowińska, Patryk Domarecki
openalex   +1 more source

Case Report: A Case of Gait Disorder Due to Combined Methylmalonic Aciduria and Homocystinuria

Journal of Rehabilitation, 2000
This disorder is too rare that about 100 patients have been reported in the world. In this condition a liver enzyme (methylmalonyl CoA mutase) which should carry out one of many thousands of chemical processes that turn protein into energy or body ...
Firouzeh Sajedi
doaj  

Methylmalonic aciduria due to transcobalamin receptor defect [PDF]

, 2020
Inserm
openalex   +1 more source

Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series

Neuropsychiatric Disease and Treatment, 2019
Sheng-jun Wang, Chuan-zhu Yan, Bing Wen, Yu-ying Zhao Department of Neurology, Qilu Hospital, Shandong University, Jinan, China Objective: The Cobalamin C (cblC) disease is an inborn error of cobalamin metabolism.
Wang S, Yan C, Wen B, Zhao Y
doaj  

Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection. [PDF]

Clin Kidney J, 2023
Rafat C, Doreille A, Dancer M, Werion A, Benoist JF, Raymond L, Mesnard L.   +6 more
europepmc   +1 more source