Results 81 to 90 of about 1,339 (150)

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

Neonatal genetic sequencing as a first-tier option: a real-world clinical implementation study in Northern China. [PDF]

Ann Med
Mu J, Sun M, Li Y, Li P, Zou H.
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

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

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

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study. [PDF]

J Inherit Metab Dis
Stepien KM, Sykut-Cegielska J, Sloan J, Piazzon F, Bick S, Bouchereau J, Ferren EC, Gold N, Imbard A, Janssen MCH, Jesina P, Joseph LA, Krzywdzińska-Rogowska A, Lapagesse L, Mochel F, Ryzin CV, Schiff M, Schwartz IV, Thurm A, Zein WM, Venditti CP, Huemer M, Manoli I.   +22 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

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

Structural insights into cobalamin loading and reactivation of human methionine synthase. [PDF]

Nat Commun
Ferreira DSM, McLennan K, Diamond C, Vollmar M, Kiyani W, Froese DS, Kopec J, Bailey HJ, Chalk R, Baslé A, Elkins JM, Coker JA, Yue WW, McCorvie TJ.   +13 more
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