Results 161 to 170 of about 14,220 (236)

Novel HILIC-ESI-MS method for urinary profiling of MSUD and methylmalonic aciduria biomarkers [PDF]

, 2019
Elizabeth Mary Mathew, Leslie Lewis, Pragna Rao, K. Nalini, Asha Kamath, Sudheer Moorkoth   +5 more
openalex   +1 more source

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype [PDF]

, 2011
Ahmed Alfares, Laura Dempsey Nunez, Khalid Al‐Thihli, John J. Mitchell, S. Melançon, Natascia Anastasio, Kevin Ha, Jacek Majewski, David S. Rosenblatt, Nancy Braverman   +9 more
openalex   +1 more source

Candidate genes in quantitative trait loci associated with absolute and relative kidney weight in rats with Inherited Stress Induced Arterial Hypertension [PDF]

, 2015
Arcady L Markel, Leonid O Klimov, Olga E Redina, Svetlana E Smolenskaya   +3 more
core   +1 more source

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

, 2009
James D. Weisfeld‐Adams, Mark A. Morrissey, Brian Kirmse, Bobbie R. Salveson, Melissa Wasserstein, Peter J. McGuire, Sherlykutty Sunny, Jessica Cohen‐Pfeffer, Chunli Yu, Michele Caggana, George A. Díaz   +10 more
openalex   +1 more source

Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy [PDF]

, 1996
Michael Podell, G. Diane Shelton, William L. Nyhan, Susan Wagner, Anne Genders, Michael Oglesbee, William R. Fenner   +6 more
openalex   +1 more source

Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type

Chinese Medical Journal, 2017
Li-Yong Wu, Hong An, Jia Liu, Jie-Ying Li, Yue Han, Ai-Hong Zhou, Fen Wang, Jian-Ping Jia   +7 more
doaj   +1 more source

Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias [PDF]

Sufin Yap, Serena Gasperini, Shirou Matsumoto, François Feillet   +3 more
openalex   +1 more source

A case of late-onset cobalamin C disease (methylmalonic aciduria and homocystinuria, cobalamin C type)

, 2015
Mikie Yamamoto, Kenichi Yasui, Yasuhiro Watanabe, Hisanori Kowa, Seiji Yamaguchi, Kenji Nakashima   +5 more
openalex   +2 more sources

Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity [PDF]

, 2002
Jürgen G. Okun, Friederike Hörster, Lilla Farkas, Patrik Feyh, Angela Hinz, Sven W. Sauer, Georg F. Hoffmann, Klaus Unsicker, Ertan Mayatepek, Stefan Kölker   +9 more
openalex   +1 more source

Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria [PDF]

, 2009
Yves de Keyzer, Vassili Valayannopoulos, Jean‐François Benoist, Frédéric Batteux, Florence Lacaille, Laurence Hubert, Dominique Chrétien, Bernadette Chadefeaux-Vekemans, Patrick Niaudet, Guy Touati, Arnold Münnich, Pascale de Lonlay   +11 more
openalex   +1 more source