Results 91 to 100 of about 1,339 (150)

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

Animal models of methylmalonic acidemia: insights and challenges. [PDF]

Orphanet J Rare Dis
Shan S, Liu M, Ma Y, Sun M, Wang Y, Zou H.   +5 more
europepmc   +1 more source

Complement Factor H Mutation-Associated Atypical Haemolytic Uraemic Syndrome Presenting With Dialysis-Dependent Renal Failure: A Case Report. [PDF]

Cureus
Jain A, Mohamed D, Satheesh Nair G, Magriplis M, Yusuf A, Matthews G.   +5 more
europepmc   +1 more source

cblC: Advances in defining theMMACHCmutation spectrum [PDF]

Human Mutation, 2009
openaire   +1 more source

Editorial: Epigenetic modifications and cardiovascular diseases. [PDF]

Front Pharmacol
Pokkunuri I, Foster CR, Dalal S.
europepmc   +1 more source

An unusual Co-S bond links B₁₂ chaperones in an interprotein complex. [PDF]

Proc Natl Acad Sci U S A
Mascarenhas R, Ruetz M, Heitman N, Hall RL, Brunold TC, Banerjee R.   +5 more
europepmc   +1 more source

Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives. [PDF]

Front Nutr
Saini AG, Gunasekaran PK, Prasad AN.
europepmc   +1 more source

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families. [PDF]

Sci Rep
Aslam F, Wajid M, Butt AI, Wohler E, Seo GH, Ji W, Lakhani SA, Sobreira N, Naz S.   +8 more
europepmc   +1 more source

Exploration of Metabolic Alterations in Methylmalonic Acidemia across Distinct Genetic Backgrounds. [PDF]

ACS Omega
Zhi HJ, Ding Y, Deng YX, Chen T, Cao Y, Chang SY, Zhan X, Xu F, Hao LL, Liang LL, Qiu WJ, Zhang HW, Gu XF, Han LS.   +13 more
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