Results 101 to 110 of about 452,408 (160)

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

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

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

Front Nutr
Saini AG, Gunasekaran PK, Prasad AN.
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

Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases. [PDF]

Int J Neonatal Screen
Meijer NWF, Koop K, Maase RE, Hall PL, Visser WF, Oussoren E, Bosch AM, Heiner-Fokkema MR, de Sain-van der Velden MGM.   +8 more
europepmc   +1 more source

Analysis of homocysteine levels in carriers with MMACHC gene variants. [PDF]

Orphanet J Rare Dis
Ding Y, Deng Y, Zhi H, Zhan X, Ji W, Gong Z, Hao L, Han L.   +7 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

Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect. [PDF]

Front Cardiovasc Med
Xu D, Zhang C, Hao L, Bi S, Xue A, Yuan L, Wang W.   +6 more
europepmc   +1 more source

Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant. [PDF]

Clin Epigenetics
Škopková M, Kabelíková P, Andrésová A, Brennerová K, Dallemule S, Sabo M, Petrovič R, Gašperíková D.   +7 more
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