Results 151 to 160 of about 14,220 (236)

Medicina Balear 2010, vol. 25, n. 3 [PDF]

Medicina Balear, òrgan de la Reial Acadèmia de Medicina de les Illes Balears, publica en català, castellà o anglès treballs originals, articles de revisió, cartes al director i altres escrits d'interès relacionats amb les ciències de la salut i presta ...
Reial Acadèmia de Medicina de les Illes Balears
core  

Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. [PDF]

, 1967
V. G. Oberholzer, B. Levin, E A Burgess, W. F. Young   +3 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

Clinical and genetic analysis of 658 children with repeat hospitalization for methylmalonic aciduria from central China: a single-center retrospective study [PDF]

Shuai Zhao, Nan Ma, Man Zhang, Liyi Chen, Zhiyong Liang, Xiaocui Ma, Shuying Luo, Haiyan Wei, Yaodong Zhang   +8 more
openalex   +1 more source

Methylmalonic aciduria, hyperhomocysteinemia, hematologic and/or neurologic abnormalities in 3 infants born to mothers with asymptomatic B12 deficiency [PDF]

, 2000
Sarah M. Nikkel, Aizeddin A. Mhanni, Louise A. Dilling, L.E. Seargeant, Kent Stobart, David S. Rosenblatt, Jed B. Gorlin, Mark Korson, C. R. Greenberg, C. Prasad   +9 more
openalex   +1 more source

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

Methylmalonic Aciduria, cblB Type [PDF]

, 2020
openaire   +1 more source

Primary Pulmonary Hypertension Associated with Asymptomatic Methylmalonic Aciduria in a Child

, 2019
Fatma Zohra Chioukh, Kamel Monastiri
openalex   +1 more source

Methylmalonyl Coenzyme A Racemase Defect: Another Cause of Methylmalonic Aciduria [PDF]

, 1972
Ellen S. Kang, Philip J. Snodgrass, Park S. Gerald   +2 more
openalex   +1 more source

Cellular and computational models reveal environmental and genetic interactions in MMUT-type methylmalonic aciduria

, 2022
Ramon C, Traversi F, Bürer C, Froese DS, Stelling J.   +4 more
europepmc   +1 more source