Results 101 to 110 of about 12,046 (150)

Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning.

Biochimica et Biophysica Acta - Molecular Basis of Disease, 2022
Á. Briso-Montiano, A. Vilas, E. Richard, P. Ruiz-Sala, E. Morato, L. Desviat, M. Ugarte, P. Rodríguez-Pombo, B. Pérez   +8 more
semanticscholar   +1 more source

Erratum to: Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters

, 2009
Friederike Hörster, Sven F. Garbade, T. Zwickler, Halil İbrahim Aydın, Olaf A. Bodamer, Alberto Burlina, Anibh M. Das, J. B. C. de Klerk, Carlo Dionisi‐Vici, S Geb, Gülbin Gökçay, Nathalie Guffon, Esther M. Maier, Éva Morava, Johannes Walter, Bernd Schwahn, Frits A. Wijburg, Martin Lindner, Stephanie Grünewald, Matthias R. Baumgartner, Stefan Kölker   +20 more
openalex   +2 more sources

Correction of Methylmalonic AciduriaIn VivoUsing a Codon-Optimized Lentiviral Vector

, 2014
Edward S.Y. Wong, Chantelle McIntyre, Heidi Peters, Enzo Ranieri, Donald S. Anson, Janice M. Fletcher   +5 more
openalex   +1 more source

Rare treatable cause for global developmental delay with metabolic encephalopathy: Methylmalonic aciduria, cblA type

, 2023
Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan   +1 more
openalex   +2 more sources

Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report

BMC Nephrology
Background Combined methylmalonic acidemia (MMA) and hyperhomocysteinemia, cobalamin C (cblC) type, also named cblC deficiency is a rare autosomal recessive genetic metabolic disease.
Qiufa Hao, Bei Jiang, Yuying Zhao, Zhao Hu   +3 more
doaj   +1 more source

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy

, 2015
Frederick T. Collison, Ya‐Jing Xie, Tomasz Gambin, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Gerald A. Fishman, Rando Allikmets   +8 more
openalex   +1 more source

Methylmalonic Aciduria may be an Innegligible Etiology of Cerebral Venous Sinus Thrombosis [PDF]

, 2018
Da Zhou, Weijuan Wu, Yuchuan Ding, Xunming Ji, Ran Meng   +4 more
openalex   +1 more source

Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria [PDF]

, 2001
Markus Heinemann, Maren Tomaske, Friedrich K. Trefz, Axel Bosk, Winfried Baden, Gerhard Ziemer   +5 more
openalex   +1 more source

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria [PDF]

, 2002
Chris Dobson
openalex   +1 more source

An expanding spectrum of complications in isolated methylmalonic aciduria. [PDF]

J Mother Child, 2020
Forny P, Grunewald S.
europepmc   +1 more source