Results 151 to 160 of about 452,408 (160)

Hydroxocobalamin dose intensification improves ocular, neurological and biochemical outcomes in CBLC deficiency

Molecular Genetics and Metabolism
Jennifer Sloan, Wadih Zein, Audrey Thurm, Camryn Hall, Carol Van Ryzin, Susan Ferry, Abigael Gebremariam, Jennifer Myles, Laryssa Huryn, Brian Brooks, Irini Manoli, Charles Venditti   +11 more
openaire   +1 more source

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

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

Glutathione Metabolism in Cobalamin Deficiency Type C (cblC)

Journal of Inherited Metabolic Disease, 2014
Sara Petrillo, Enrico Bertini, Carlo Dionisi-Vici   +2 more
exaly  

Subacute Combined Degeneration of the Spinal Cord in cblC Disorder Despite Treatment With B12

Molecular Genetics and Metabolism, 2006
Hannah C Kinney, Kathryn J Swoboda, Harvey L Levy   +2 more
exaly  

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  

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  

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  

Remarkable therapeutic response in an early treated patient with methylmalonic acidemia (MMA) associated with CblC deficiency

2014
LEUZZI, Vincenzo, CARDUCCI, Claudia, CARDUCCI, Carla, Misuraca, S, Vitale, V, Antonaci, L.   +5 more
openaire   +1 more source

CBLC Promotes the Development of Colorectal Cancer by Promoting ABI1 Degradation to Activate the ERK Signaling Pathway

Translational Oncology
Wenjun Pan, Guanyu Yan, Xingwu Liu
exaly