Results 181 to 190 of about 1,993 (190)

Characterization of patients with combined methylmalonic aciduria and homocystinuria diagnosed as cblC

2014
Rosenblatt, David (Internal/Supervisor)
openaire   +1 more source

A Clinical and Gene Analysis of Late-Onset Combined Methylmalonic Aciduria and Homocystinuria, cblC Type, in China

Journal of the Neurological Sciences, 2012
Wenjun Sun, Cunjiang Li, Yanhui Yang
exaly  

Fetal Dilated Cardiomyopathy: An Unsuspected Presentation of Methylmalonic Aciduria and Hyperhomocystinuria, cblC Type

Prenatal Diagnosis, 2009
Grant A Mitchell, Isabelle De Bie
exaly  

Spectrum of MMACHC Mutations in Italian and Portuguese Patients With Combined Methylmalonic Aciduria and Homocystinuria, cblC Type

Molecular Genetics and Metabolism, 2008
Laura Vilarinho, Carlo Dionisi-Vici, Filippo Maria Santorelli   +2 more
exaly  

Late-Onset Combined Homocystinuria and Methylmalonic Aciduria (cblC) and Neuropsychiatric Disturbance

American Journal of Medical Genetics, Part A, 2007
David S Rosenblatt, Gunter Scharer, Jordan P Lerner-Ellis   +2 more
exaly  

Newborn Screening and Early Biochemical Follow-Up in Combined Methylmalonic Aciduria and Homocystinuria, cblC Type, and Utility of Methionine as a Secondary Screening Analyte

Molecular Genetics and Metabolism, 2010
Michele Caggana, James D Weisfeld-Adams, Jessica L Cohen-Pfeffer   +2 more
exaly  

First Chinese Case of Successful Pregnancy With Combined Methylmalonic Aciduria and Homocystinuria, cblC Type

Brain and Development, 2015
Yanling Yang, Jinqing Song, Xiyuan Li
exaly  

Potential of 5CBLC-Doped PVA-PVP Films in Optoelectronic Devices: Particularly Regarding Their Enhanced Insulation Properties

Optical and Quantum Electronics
Abdelfatteh Bouzidi, Ibrahim Yahia, Hajer Guermazi   +2 more
exaly  

METHYLMALONIC ACIDURIAS - mut0/mut- and cblC Defects in Portuguese Population

Proceedings of the First International Conference on Bioinformatics, 2010
openaire   +1 more source

Clinical Presentation, Gene Analysis and Outcomes in Young Patients With Early-Treated Combined Methylmalonic Acidemia and Homocysteinemia (cblC Type) in Shandong Province, China

Brain and Development, 2016
exaly