Results 21 to 30 of about 565,458 (146)

Rare cause of coronary artery ectasia in children: A case report of methylmalonic acidemia with hyperhomocysteinemia

Frontiers in Pediatrics, 2022
BackgroundMethylmalonic acidemia (MMA) with hyperhomocysteinemia is caused by cobalamin deficiency, mainly due to disturbance of cobalamin C (cblC) metabolism. Its clinical manifestations involve many organs.
Tu Juan, Chen Chao-ying, Li Hua-rong, Wan Ling   +3 more
doaj   +1 more source

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients

Frontiers in Pediatrics, 2021
Introduction: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare metabolic disease caused by biallelic variants in ACSF3 gene. The clinical phenotype is highly heterogeneous in this disorder, ranging from asymptomatic to severe symptoms.
Ping Wang, Ping Wang, Jianbo Shu, Jianbo Shu, Chunyu Gu, Chunyu Gu, Chunyu Gu, Xiaoli Yu, Jie Zheng, Jie Zheng, Chunhua Zhang, Chunquan Cai, Chunquan Cai, Chunquan Cai   +13 more
doaj   +1 more source

Gene Frequencies of Methylmalonic Acidemia Disease at the Global Level and Compiling the Pathogenic Mutations in the Iranian Population [PDF]

Research in Molecular Medicine, 2023
Background: Methylmalonic acidemia (MMA) is a rare autosomal recessive metabolic disorder resulting from a genetic defect in methylmalonyl-CoA mutase (MCM) or a defect in the biosynthesis of its cofactor, adenosyl-cobalamin (AdoCbl).
Ghazaleh Malekizadeh, Omid Jazayeri, Morteza Alijanpour, Majid Tafrihi   +3 more
doaj  

ANEJOS DEL BOLETÍN DE LA REAL ACADEMIA ESPAÑOLA [PDF]

, 2023
ANEJOS DEL BOLETÍN DE LA REAL ACADEMIA ...
Academia Española, Real
core   +1 more source

An on-line solid phase extraction procedure for the routine quantification of urinary methylmalonic acid by liquid chromatography-tandem mass spectrometry [PDF]

, 2010
Background: The goal of this study was to develop and to validate an improved isotope-dilution-liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the quantification of methylmalonic acid (MMA) in urine.
Michael Vogeser, Lorenzl, Stephan, Stephan Lorenzl, Fabian Kirchhoff, Vogeser, Michael, Kirchhoff, Fabian   +5 more
core   +1 more source

Rapid screening of MMACHC gene mutations by high‐resolution melting curve analysis

Molecular Genetics & Genomic Medicine, 2020
Background Cobalamin (cbl) C is a treatable rare hereditary disorder of cbl metabolism with autosomal recessive inheritance. It is the most common organic acidemia, manifested as methylmalonic academia combined with homocysteinemia.
Chao Wang, Yang Liu, Fengying Cai, Xinjie Zhang, Xiaowei Xu, Yani Li, Qianqian Zou, Jie Zheng, Yuqin Zhang, Wei Guo, Chunquan Cai, Jianbo Shu   +11 more
doaj   +1 more source

Inherited metabolic disorders in a cohort of Egyptian children

Egyptian Liver Journal, 2022
Background Inborn errors of metabolism (IEMs) represent a special challenge in pediatric practice. Despite the unquestionable clinical significance of newborn screening, it just offers a snapshot of an extremely minor subgroup of metabolic disorders. So,
Shimaa Abdelsattar, Manar Obada, Mahmoud A. El-Hawy, Sameh A. Abd El Naby, Osama K. Zaki, Hala Elsaid   +5 more
doaj   +1 more source

Noninvasive prenatal test of methylmalonic academia cblC type through targeted sequencing of cell-free DNA in maternal plasma [PDF]

, 2018
Abstract Methylmalonic acidemia (MMA) cblC type is the most frequent inborn error of intracellular cobalamin metabolism which is caused by mutations of MMACHC gene. Non-invasive test of MMA for pregnant women facilitates safe and timely prenatal diagnosis of the disease.
Han, Lianshu, Chen, Chao, Guo, Fengyu, Ye, Jun, Peng, Zhiyu, Qiu, Wenjuan, Wang, Yaoshen, Li, Wei, Zhang, Huiwen, Liang, Lili, Wang, Yu, Wang, Huanhuan, Ji, Xing, Sun, Jun, Gu, Xuefan   +14 more
openaire   +1 more source

ACUTE METABOLIC CRISIS TREATMENT PROTOCOL AT METHYLMALONIC ACIDEMIA

Педиатрическая фармакология, 2014
The article is dedicated to a pressing issue of pediatrics — diagnosis and treatment of an autosomal-recessive disease from the group of organic acidemias — methylmalonic acidemia.
S. I. Polyakova, E. A. Roslavtseva, R. F. Tepaev, A. O. Anushenko   +3 more
doaj   +1 more source

The Prevalence of Phenylketonuria and other metabolic diseases in sick Iraqi children; the importance of the newborn screening program.

مجلة كلية الطب, 2013
Background: Phenylketonuria (PKU) is one of the most important metabolic causes for mental retardation in children, in which early diagnosis would successfully prevent mental retardation, yet, there are some other serious metabolic diseases that share ...
Rabab F. Thijeel
doaj   +1 more source