Results 81 to 90 of about 2,810 (170)

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

Newborn screening for methylmalonic acidemia: insights from a retrospective analysis in Hefei, China. [PDF]

Orphanet J Rare Dis
Wang Y, Ma Q, Li W, Huang Y, Song W, Xu H, Zhu P, Hu H.   +7 more
europepmc   +1 more source

Methylmalonic Acidemia in Mainland China [PDF]

Annals of Nutrition and Metabolism, 2011
openaire   +2 more sources

Encephalitis-like presentation of methylmalonic acidemia with homocystinuria in a postpartum woman: a case report. [PDF]

Front Psychiatry
Wang Q, Ji Z, Wang Y, Qi Z.
europepmc   +1 more source

Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort. [PDF]

J Inherit Metab Dis
Vissac A, Sarda E, Roux CJ, Schiff M, Bérat CM, Bouchereau J, Arnoux JB, de Puyraimond C, Gaschignard M, Mekdade T, Cucinotta U, Mayer C, Barbier V, Benoist JF, Oualha M, Capito C, Chardot C, Dao M, Servais A, Francoz C, Dehoux L, Lacaille F, Desguerre I, Boddaert N, de Lonlay P, Brassier A.   +25 more
europepmc   +1 more source

Mechanisms of Microglial NLRP3 Inflammasome Activation by Methylmalonic Acid in Methylmalonic Acidemia. [PDF]

Mediators Inflamm
Sun S, Sun L, Su Y, Li A, Hu L, Li Q.
europepmc   +1 more source

Modeling Inherited Methylmalonic Acidemia Using Isogenic Human Induced Pluripotent Stem Cell-Derived Hepatocytes with Mutations in <i>Methylmalonyl-CoA Mutase</i>. [PDF]

MicroPubl Biol
Pournasr B, Duncan S.
europepmc   +1 more source