Results 11 to 20 of about 3,985 (198)

Identification of gene mutations in six Chinese patients with maple syrup urine disease [PDF]

Frontiers in Genetics, 2023
Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive amino acid metabolic disease. This study is to identify the pathogenic genetic factors of six cases of MUSD and evaluates the application value of high-throughput sequencing ...
Lulu Li, Xinmei Mao, Nan Yang, Taoyun Ji, Shunan Wang, Yulan Ma, Haihe Yang, Yuting Sang, Jinqi Zhao, Lifei Gong, Yue Tang, Yuanyuan Kong   +11 more
doaj   +2 more sources

CRRT: trattamento della crisi metabolica grave nella maple syrup urine disease

Giornale di Clinica Nefrologia e Dialisi, 2018
non ...
Pasquale Fatuzzo, Rossella R Marchese, Roberta Aliotta, Alessandra Pani, Luca Zanoli   +4 more
doaj   +2 more sources

Maple syrup urine disease in Brazil: a panorama of the last two decades

Jornal de Pediatria (Versão em Português), 2015
Objective: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. Methods: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of ...
Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler‐Faccini, Carolina Fischinger Moura de Souza   +8 more
doaj   +6 more sources

Two consecutive partial liver transplants in a patient with Classic Maple Syrup Urine Disease

Molecular Genetics and Metabolism Reports, 2015
Maple syrup urine disease is caused by a deficiency in the branched chain ketoacid dehydrogenase (BCKAD) complex. This results in the accumulation of branched chain amino acids (BCAA) and branched chain ketoacids in the body.
H.L. Chin, M.M. Aw, S.H. Quak, J. Huang, C.E. Hart, K. Prabhakaran, D.L. Goh   +6 more
doaj   +2 more sources

Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease. [PDF]

JIMD Rep
Tu SC, Khan M, Wolfe K, Kulkarni SS, Toolan E, Grange DK.   +5 more
europepmc   +3 more sources

HMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease. [PDF]

JIMD Rep
ABSTRACT Mitochondrial HMG‐CoA synthase‐2 (HMGCS2) deficiency is characterized by hypoketotic hypoglycemia, metabolic acidosis, hepatomegaly, and encephalopathy with onset between 3 and 36 months of age. Approximately 50 cases were reported worldwide. We describe two patients with HMGCS2 deficiency.
Vaseenon H, Tim-Aroon T, Saengow VE, Sangcakul A, Wongkittichote P, Khongkraparn A, Wattanasirichaigoon D.   +6 more
europepmc   +2 more sources

Maple syrup urine disease

, 2019
Pir Abdul Ahad Qureshi, Ankit Chauhan
openaire   +2 more sources

Maple syrup urine disease [PDF]

The Journal of Pediatrics, 1961
Summary An example of “maple syrup urine”disease was confirmed by amino acid chromatography; its description is accompanied by a summary of the clinical features found in other reported cases. The characteristic pattern is that of an infant who, after thriving for the first few days of life, begins to nurse poorly, develops progressive depression of ...
L, CROME, G, DUTTON, C F, ROSS
  +7 more sources

Maple Syrup Urine Disease

Radiology
Hassan SA, Gupta V.
europepmc   +3 more sources

An induced pluripotent stem cell line (SDQLCHi033-A) derived from a patient with maple syrup urine disease type Ib carrying a homozygous mutation in BCKDHB gene

Stem Cell Research, 2021
Maple syrup urine disease (MSUD) type Ib is a subclass of MSUD (248600) which is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex. An induced pluripotent stem cell (iPSC) line was generated from an 11-
Bin Wang, Chen Liu, Haiyan Zhang, Zhongtao Gai, Yi Liu   +4 more
doaj   +1 more source