Results 131 to 140 of about 1,993 (190)

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

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

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

CblC Deficency And Optic Atrophy: Wait and See. Case Report

American Journal of Biomedical Science & Research, 2023
openaire   +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

Abnormal Endocytosis Resulting from Imbalanced Proteomic Doses in Human Aneuploid Embryos. [PDF]

Reprod Sci
Duan R, Liang X, Yang Y, Guo J.
europepmc   +1 more source

Cobalamin C deficiency: a rare but treatable genetic cause of pulmonary hypertension. [PDF]

Orphanet J Rare Dis
Grynblat J, Coulet F, Montani D.
europepmc   +1 more source

Construction and validation of immune prognosis model for lung adenocarcinoma based on machine learning. [PDF]

Front Oncol
Zheng J, Xu X, Chen X, Li X, Fu M, Zheng Y, Yang J.   +6 more
europepmc   +1 more source

Homocystinuria symptomatology collected through an international patient-report data program as a source for natural history data. [PDF]

Mol Genet Metab Rep
Parke B, Bartke D, Beek G, Talebizadeh Z, Chapman KA, Baker J, Thomas JA.   +6 more
europepmc   +1 more source

Trauma-Focused Cognitive Behavioral Therapy Among Therapists Participating in Learning Collaboratives: Examining Two Implementation Strategies. [PDF]

Evid Based Pract Child Adolesc Ment Health
Espeleta HC, Kautz MM, Wade S, Swiecicki C, Hanson RF.   +4 more
europepmc   +1 more source