Results 101 to 110 of about 1,339 (150)

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 molecular spectrum of patients with methylmalonic acidemia and homocysteinemia complicated by cardiovascular manifestations. [PDF]

Orphanet J Rare Dis
Zhao W, Zhang Y, Pi Y, Li Y, Zhang H.
europepmc   +1 more source

Retrospective analysis of diagnosis and treatment in 9 cases of childhood-onset methylmalonic acidemia in China. [PDF]

Front Neurol
Fan C, Xu L, Gan S, Wu L, Yang H, Ning Z.   +5 more
europepmc   +1 more source

Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment. [PDF]

Int J Neonatal Screen
Nardecchia F, De Giorgi A, Santagata S, Giovanniello T, Tolve M, Angeloni A, Leuzzi V, Pisani F, Carducci C.   +8 more
europepmc   +1 more source

Clinical and genetic characteristics of late-onset cobalamin C deficiency: A multicenter study in northern China. [PDF]

Intractable Rare Dis Res
Zhang H, Wei Y, Sun Y, Zhang Y, Wang Z, Zou H, Da Y, Zhao Z, Zhang Z, Wu G, Zhao W, Tian C, Yan C, Wang C, Zhao Y.   +14 more
europepmc   +1 more source

Comprehensive gene profiling by Next-Generation sequencing in a cohort of Egyptian pediatric Atypical HUS. [PDF]

J Genet Eng Biotechnol
Fadel FI, Amr K, Galal RE, El-Kamah G, Abdel Mawla MA, Salem AM, Thabet MS, A Othman S.   +7 more
europepmc   +1 more source

Methionine restriction in cancer: a dietary insight for therapy. [PDF]

Front Nutr
Tian X, Zhu G, Zhang Y, Liu N.
europepmc   +1 more source

Causal Links Between Sleep Duration and Sarcopenia-Related Phenotypes: A Mendelian Randomization and Shared Genetic Mechanism Study. [PDF]

Am J Phys Med Rehabil
Shang H, Deng Z, Lian Y, Ai Y, Zhang J, Li G.   +5 more
europepmc   +1 more source

INVESTIGATION ON A MMACHC MUTANT FROM cblC DISEASE

Longo, L, Carrotta, R, Passantino, R, Mangione, Mr, Randazzo, L, Martorana, V   +5 more
openaire   +1 more source