Results 111 to 120 of about 7,812 (191)

Severe Methylmalonic Acidemia Precipitated by Dietary B12 Deficiency in Vegan Toddler. [PDF]

Pediatr Rep
Edwell A, Bessler S, Burke S.
europepmc   +1 more source

Neonatal-onset cblC-type methylmalonic acidemia combined with homocysteinemia: case report. [PDF]

Front Pediatr
Zhang G, Zhang L, Liu H.
europepmc   +1 more source

Optic Atrophy in Classical Methylmalonic Acidemia (.pdf)

, 2016
Methylmalonic acidemia (MMA) is an autosomal recessive, metabolic failure to process various amino acids and lipids. Classical MMA results in methylmalonyl CoA mutase deficiency, preventing the vitamin B12-dependent conversion of methylmalonyl CoA to ...
Joyce N. Mbekeani; Hachemi Nezzar; Ola Al Ali; Zahra Al Sahlawi; Abdelmoniem Eldali; Mohammed Al Owain
core  

Correction: Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia. [PDF]

Mol Cell Pediatr
Alsuhaymi S, AlMalki RH, Al Mogren M, Alodaib A, Emwas AH, Dasouki M, Alfares A, Jaremko M, Abdel Rahman AM.   +8 more
europepmc   +1 more source

Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia. [PDF]

Mol Cell Pediatr
Alsuhaymi S, AlMalki RH, Al Mogren M, Alodaib A, Emwas AH, Dasouki M, Alfares A, Jaremko M, Abdel Rahman AM.   +8 more
europepmc   +1 more source

Peritoneal Dialysis in Infant Methylmalonic Acidemia: Effective Management Despite Sterile Peritonitis. [PDF]

Cureus
Manir MZ, Haldar U, Gopal N, Mohanraj PS, Girish M, Dhawan D.   +5 more
europepmc   +1 more source

Clinical phenotypes and genetic mutation analysis of 45 neonatal-onset methylmalonic acidemia. [PDF]

Front Pediatr
Xu Q, Kang L, Yv H, Li Y, Liu C, Li X.
europepmc   +1 more source

Clinical and genotypic analysis of 79 children with methylmalonic acidemia: a retrospective single-center study in China. [PDF]

Front Endocrinol (Lausanne)
Yu H, Xie X, Chen C, Chen D, Sun Y, Li G, Shang X, Yang J.   +7 more
europepmc   +1 more source

Methylmalonic Acidemia: A Review of Cases in Jordan. [PDF]

Cureus
Alakil M, Megdadi NA, Alghonemeen L, Alrababah S, Altawarah N, Alqyam S.   +5 more
europepmc   +1 more source

Orthopedic Intervention in an Organic Acid Disorder: Challenges in the Management of Hip Dislocation in a Child with Late Onset Methylmalonic Acidemia. [PDF]

J Orthop Case Rep
Ponraj DGS, Sitsabesan C, Menon PG, Manokaran RK, Narasimhan RL.   +4 more
europepmc   +1 more source