Results 71 to 80 of about 2,810 (170)

NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias

Biomolecules
Although both localized nuclear magnetic resonance spectroscopy (MRS) and non-localized nuclear magnetic resonance spectroscopy (NMR) generate the same information, i.e., spectra generated by various groups from the structure of metabolites, they are ...
Calin Deleanu, Alina Nicolescu
doaj   +1 more source

Reversing Acute Cardiomyopathy With Coenzyme Q10 Supplementation in Cobalamin B Disease: A Case Report and Literature Review

JIMD Reports
Methylmalonic acidemia (MMA) is a rare metabolic disorder with various subtypes, including Cobalamin B (cblB) disease. While cardiac complications are well‐documented in propionic acidemia, their occurrence in MMA is less understood. Here, we report a 12‐
Dalia Said, Aisha Al Shamsi
doaj   +1 more source

Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations

BMC Pediatrics
Objective This study investigated the clinical, imaging, and electroencephalogram (EEG) characteristics of methylmalonic acidemia (MMA) with nervous system damage as the primary manifestation.
Yujun Yuan, Ying Ma, Qiong Wu, Liang Huo, Chun-Feng Liu, Xueyan Liu   +5 more
doaj   +1 more source

Methylmalonic acidemia

Kidney International, 1979
openaire   +2 more sources

Exploration of Metabolic Alterations in Methylmalonic Acidemia across Distinct Genetic Backgrounds. [PDF]

ACS Omega
Zhi HJ, Ding Y, Deng YX, Chen T, Cao Y, Chang SY, Zhan X, Xu F, Hao LL, Liang LL, Qiu WJ, Zhang HW, Gu XF, Han LS.   +13 more
europepmc   +1 more source

Severe Methylmalonic Acidemia Precipitated by Dietary B12 Deficiency in Vegan Toddler. [PDF]

Pediatr Rep
Edwell A, Bessler S, Burke S.
europepmc   +1 more source

Neonatal-onset cblC-type methylmalonic acidemia combined with homocysteinemia: case report. [PDF]

Front Pediatr
Zhang G, Zhang L, Liu H.
europepmc   +1 more source

Correction: Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia. [PDF]

Mol Cell Pediatr
Alsuhaymi S, AlMalki RH, Al Mogren M, Alodaib A, Emwas AH, Dasouki M, Alfares A, Jaremko M, Abdel Rahman AM.   +8 more
europepmc   +1 more source

Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia. [PDF]

Mol Cell Pediatr
Alsuhaymi S, AlMalki RH, Al Mogren M, Alodaib A, Emwas AH, Dasouki M, Alfares A, Jaremko M, Abdel Rahman AM.   +8 more
europepmc   +1 more source

Peritoneal Dialysis in Infant Methylmalonic Acidemia: Effective Management Despite Sterile Peritonitis. [PDF]

Cureus
Manir MZ, Haldar U, Gopal N, Mohanraj PS, Girish M, Dhawan D.   +5 more
europepmc   +1 more source