Results 121 to 130 of about 452,408 (160)

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

Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China. [PDF]

Front Neurol
Qu R, Han A, Zhao Y, Qu X, Zhu Y.
europepmc   +1 more source

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias. [PDF]

Clin Genet
Yin K, Qi Q.
europepmc   +1 more source

Retinal Biomarkers of Folate and Vitamin B12 Metabolic Dysfunction: A Framework for Machine Learning-Assisted Detection of Cerebral Folate Deficiency. [PDF]

Cells
Ayoub G, Brown C.
europepmc   +1 more source

Modulation of conformational features and oligomerization of MMACHC by cobalamin variants: impact of the R161Q mutation in cblC disease. [PDF]

Eur Biophys J
Longo L, Costa MA, Carrotta R, Mangione MR, Martorana V, Tutone M, Ortore MG, Garcia-Franco PM, Vega S, Velazquez-Campoy A, Passantino R, Vilasi S.   +11 more
europepmc   +1 more source

Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case report. [PDF]

BMC Neurol
Griffo M, Magri F, Furlan F, Bernardi E, Menni F, Tagliaferri F, Testa S, Ronchi D, Petrillo S, Piemonte F, Gagliardi D, Parisi M, Padelli S, Velardo D, Molitierno N, Corti S, Comi GP.   +16 more
europepmc   +1 more source

New genetic tools to define the pathophysiology of inborn errors of cobalamin metabolism impacting mammalian development. [PDF]

Differentiation
Chern T, Tong X, Bauer WG, Quispe-Parra DJ, Gao X, Gerner-Mauro KN, Poché RA.   +6 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

Homocystinuria in a consanguineous indigenous family from rural Honduras: a ten-year follow up and literature review of familial cases. [PDF]

Arch Clin Cases
Kodali AT, Schrunder ER, Kennedy LS, Chamberlin MD, Pineda CUA.   +4 more
europepmc   +1 more source

A case report of combined methylmalonic acidemia and homocysteinemia presented with cerebral sinus thrombosis and fluctuating cognitive impairment. [PDF]

Medicine (Baltimore)
Wang J, Liu L, Wang H.
europepmc   +1 more source