Results 21 to 30 of about 1,137 (152)

An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene

Stem Cell Research, 2019
Maple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral
Yue Li, Haiyan Zhang, Beibei Yan, Yanyan Ma, Xiaomeng Yang, Jingyun Guan, Yuqiang Lv, Min Gao, Jian Ma, Zhongtao Gai, Yi Liu   +10 more
doaj   +3 more sources

MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases [PDF]

Diagnostic and Interventional Radiology, 2017
PURPOSE:We aimed to evaluate the magnetic resonance imaging (MRI) and clinical features of maple syrup urine disease (MSUD).METHODS:This retrospective study consisted of 10 MSUD patients confirmed by genetic testing.
Ailan Cheng, Lianshu Han, Yun Feng, Huimin Li, Rong Yao, Dengbin Wang, Biao Jin   +6 more
doaj   +2 more sources

Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases

European Journal of Medical Genetics, 2015
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China, and prenatal diagnosis has not been performed so far.
Xiyuan, Li, Yuan, Ding, Yupeng, Liu, Yanyan, Ma, Jinqing, Song, Qiao, Wang, Mengqiu, Li, Yaping, Qin, Yanling, Yang   +8 more
openaire   +3 more sources

A clinical case of SYNGAP1-associated encephalopathy in a girl with epilepsy, intellectual disability, and autism [PDF]

Неврология, нейропсихиатрия, психосоматика, 2018
This paper describes a female patient aged 3 years 6 months with SYNGAP1-associated encephalopathy manifesting with symptomatic epilepsy, intellectual disability, and autism.
N. N. Savelieva, A. V. Yakunina, I. E. Poverennova   +2 more
doaj   +2 more sources

Identification of three novel mutations by studying the molecular genetics of Maple Syrup Urine Disease (MSUD) in the Lebanese population

Molecular Genetics and Metabolism Reports, 2014
Maple Syrup Urine Disease (MSUD) is a genetically heterogeneous metabolic disorder that is transmitted in an autosomal recessive manner. According to clinical data, MSUD prevalence in Lebanon is expected to be higher than the International prevalence ...
Omar Tabbouche, Amer Saker, Harry Mountain   +2 more
doaj   +2 more sources

Pt‐TiO2 mesoporous nanosystem co‐delivering phlorizin enables synergistic sonodynamic‐chemoimmunotherapy for hepatocellular carcinoma via directly targeting DDX5 and metabolic reprogramming modulation

BMEMat
Hepatocellular carcinoma (HCC), ranking as the third leading cause of cancer‐related mortality globally, continues to pose significant therapeutic challenges.
Kairui Liu, Bo Zhang, Yue Wan, Zhiru Yang, Abdusami Abdurahman, Mengxin He, Shengtao Hu, Yi Zhang, Xiaoke Li, Jin Chang, Jun Kang, Liren Liu, Wanghua Liu, Shao Li   +13 more
doaj   +2 more sources

Integrated machine learning and bioinformatic analysis of mitochondrial-related signature in chronic rhinosinusitis with nasal polyps [PDF]

World Allergy Organization Journal
Background: Chronic rhinosinusitis with nasal polyps (CRSwNP) is a prevalent inflammatory disorder affecting the upper respiratory tract. Recent studies have indicated an association between CRSwNP and mitochondrial metabolic disorder characterized by ...
Bo Yang, MMed, Min Gu, MMed, Chen Hong, MMed, Xin-Yuan Zou, MMed, Jia-Qi Zhang, MBBS, Ye Yuan, MBBS, Chang-Yu Qiu, MD, MSc, Mei-Ping Lu, MD, PhD, Lei Cheng, MD, PhD   +8 more
doaj   +2 more sources

GRSF1 Protects Against Heart Failure by Maintaining BCAA Homeostasis. [PDF]

Circulation
BACKGROUND: Imbalances in cardiac branched-chain amino acid (BCAA) metabolism and mitochondrial homeostasis are implicated in the onset and development of heart failure.
Wang H, Wang J, Zhu M, Jin L, Cui H, Liu C, Fan C, Li H, Yang J, Cui M, Song J, Wang W, Xu M.   +12 more
europepmc   +2 more sources

Clinical Profiles, Genetic Variants, and Neurodevelopmental Outcomes Following Liver Transplantation in Maple Syrup Urine Disease: A Study From Palestine. [PDF]

JIMD Rep
ABSTRACT Maple syrup urine disease (MSUD) is a rare, autosomal recessive metabolic disorder resulting from a deficiency of the branched‐chain α‐ketoacid dehydrogenase complex. This leads to the accumulation of branched‐chain amino acids and their corresponding ketoacids, causing acute metabolic crises and progressive neurological damage if untreated ...
Khalaf-Nazzal R, Haj-Ahmad H, Zaid J, AbuShamleh M, Dweikat I.   +4 more
europepmc   +2 more sources

The Complex Relation of Branched-Chain Amino Acids and Inflammation in the Obesity and Diabetes Context. [PDF]

Obes Rev
ABSTRACT In a scenario with increasing cases of obesity and diabetes worldwide, branched‐chain amino acids (BCAA) metabolism has become an important factor in the understanding of these pathologies. More recently, its chronic high plasma levels have been postulated, alongside glucose, inflammatory factors, and other molecules, as an important ...
Starling-Soares B, Coelho MM, Campolina BG, Duarte CK, Maioli TU.   +4 more
europepmc   +2 more sources