Results 101 to 110 of about 12,176 (132)

AB056. Biochemical and molecular investigation of patients with methylmalonic acidemia in Thailand

, 2017
Phannee Sawangareetrakul, Voraratt Champattanachai, James R. Ketudat Cairns   +2 more
openalex   +1 more source

280. A Partial Deficiency Model of MUT Methylmalonic Acidemia (MMA) Displays Diet Inducible Disease and Sensitivity to Acetaminophen (APAP) [PDF]

, 2013

openalex   +1 more source

Serum differential proteomic profiling of patients with isolated methylmalonic acidemia by iTRAQ. [PDF]

Front Genet, 2022
Li S, Shi C, Cai Y, Gu X, Xiong H, Liu X, Zhang Y, Xiao X, Ma F, Hao H.   +9 more
europepmc   +1 more source

Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia. [PDF]

Mol Genet Genomic Med, 2022
Agnarsdóttir D, Sigurjónsdóttir VK, Emilsdóttir AR, Petersen E, Sigfússon G, Rögnvaldsson I, Franzson L, Vernon H, Bjornsson HT.   +8 more
europepmc   +1 more source

Optic neuropathy in methylmalonic acidemia and propionic acidemia [PDF]

, 2015
Lidia Martinez Alvarez, Elisabeth Jameson, Neil R. A. Parry, Chris J. Lloyd, Jane Ashworth   +4 more
openalex   +1 more source

Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening? [PDF]

, 2019
Hanneke A. Haijes, Femke Molema, Mirjam Langeveld, Mirian C. H. Janssen, Annet M. Bosch, Francjan van Spronsen, Margot F. Mulder, Nanda M. Verhoeven‐Duif, Judith Jans, Ans T. van der Ploeg, Margreet A. E. M. Wagenmakers, M. Estela Rubio‐Gozalbo, Martijn C.G.J. Brouwers, Maaike C. de Vries, Janneke G. Langendonk, Monique Williams, Peter M. van Hasselt   +16 more
openalex   +1 more source

Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia. [PDF]

Front Genet
Xiao D, Shi C, Zhang Y, Li S, Ye Y, Yuan G, Miu T, Ma H, Diao S, Su C, Li Z, Li H, Zhuang G, Wang Y, Lu F, Gu X, Zhou W, Xiao X, Huang W, Wei T, Hao H.   +20 more
europepmc   +1 more source

Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia.

, 1977
Kuniaki Narisawa, Takashi Saito, SHIGEO HISA, Hiroshi Suzuki, Kiyoshi Hayasaka, Tsuneo Arakawa, KIMIICHI KONNO, SHUJI TSUCHIDA, Yutaka Tsuchiya   +8 more
openalex   +2 more sources

Methylmalonic Acidemia – Matter Most Awaited!

Indian Journal of Pediatrics
Sunita Bijarnia-Mahay
semanticscholar   +1 more source

General Anesthesia for a Child With Methylmalonic Acidemia Undergoing Oral Care and Dental Treatment Before Kidney Transplantation. [PDF]

Anesth Prog
Hano K, Kato M, Miyajima R, Kameyama I, Oshima Y, Tsukamoto M, Yokoyama T.   +6 more
europepmc   +1 more source