Results 71 to 80 of about 1,126 (118)

Late-onset cobalamin C defect with a rare MMACHC c.457 C > T variant: a case report and literature review. [PDF]

BMC Pediatr
Huang Q, Liao Z, Li H, Lu X, Zeng L.
europepmc   +1 more source

Clinical application value of preconception and prenatal carrier screening in Yinchuan. [PDF]

Front Genet
Han H, Zhu X, Chai L, Ha Y, Zhao F, Pan L.   +5 more
europepmc   +1 more source

Advanced Ophthalmic Drug Delivery in Homocystinuria Type CblC: A Translational Review of Ophthalmic Pathologies and Therapeutic Opportunities. [PDF]

Pharmaceutics
Cuello-Rodríguez S, Sanna M, Lecoeuche I, Sarmento B, Otero-Espinar FJ, Díaz-Tomé V.   +5 more
europepmc   +1 more source

A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review. [PDF]

Medicine (Baltimore)
Cui X, Zhong Y, Yin C.
europepmc   +1 more source

Polydactyly and syndactyly in a Chinese family with Floating-Harbor syndrome: an expansion of the clinical phenotype. [PDF]

Front Genet
Tang J, Cao Y, Huang D, Wang C, Jiang X, Zhu J.   +5 more
europepmc   +1 more source

Assessment of blood cobalt levels and safety of long-term hydroxocobalamin therapy in patients with cblC defect. [PDF]

Front Nutr
Hao L, Ding Y, Deng Y, Chen T, Zhan X, Xu F, Zhi H, Zhang K, Yang Y, Wang R, Sun Y, Han L.   +11 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

Cobalamin C Deficiency Presenting with CVID-like Immunologic Abnormalities: A Five-Patient Pediatric Case Series. [PDF]

J Clin Immunol
He R, Liu J, Zhao S, Yang H.
europepmc   +1 more source

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