Results 101 to 110 of about 3,221 (198)

Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations [PDF]

, 2010
Glutaric aciduria type I (GA I) is an autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase. Although over 400 patients confirmed as GA I have been reported, reports from the Asian population had contributed to the minor ...
Chae, Jong Hee, Cho, Sung Im, Hwang, Yong Seung, Kang, Seong-Ho, Kim, Ki Joong, Kim, Seung Ki, Lee, Joon Soo, Lim, ByungChan, Park, June Dong, Park, Sung Sup   +9 more
core   +2 more sources

Comparative analysis of gene and disease selection in genomic newborn screening studies

Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 945-970, September 2024.
Abstract Genomic newborn screening (gNBS) is on the horizon given the decreasing costs of sequencing and the advanced understanding of the impact of genetic variants on health and diseases. Key to ongoing gNBS pilot studies is the selection of target diseases and associated genes to be included.
Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garbade, Christian P. Schaaf, Heiko Brennenstuhl   +8 more
wiley   +1 more source

Nutritional deficiency dermatitis related to branched-chain amino acid restriction in a child with maple syrup urine disease [PDF]

, 2019
We present a one-year-old girl with maple syrup urine disease with dermatitis secondary to the restriction of amino acids as part of the treatment.
Campuzano-García, Andrés Eduardo, Castanedo-Cázares, Juan Pablo   +1 more
core  

Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia [PDF]

, 2016
How to Cite This Article: Najafi R, Hashemipour M, Mostofizadeh N, Ghazavi MR, Nasiri J, Shahsanai A, Famori F, Najafi F, Moafi M. Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia. Iran J Child Neurol.
FAMORI, Fatemeh, GHAZAVI, Mohammadreza, HASHEMIPOUR, Mahin, MOAFI, Mohammad, MOSTOFIZADEH, Neda, NAJAFI, Fatemeh, NAJAFI, Reza, NASIRI, Jafar, SHAHSANAI, Armindokht   +8 more
core   +2 more sources

Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes? [PDF]

, 2013
Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the
Aggarwal, A, Batla, A, Bhatia, KP, Bhatt, M, Houlden, H, Lai, SC, Lu, C-S, Schneider, SA, Stamelou, M, Yeh, T-H   +9 more
core  

Increased susceptibility to quinolinic acid-induced seizures and long-term changes in brain oscillations in an animal model of glutaric acidemia type I [PDF]

, 2022
Glutaric acidemia type I (GA-I) is an inborn error of metabolism of lysine, hydroxylysine, and tryptophan, caused by glutaryl-CoA-dehydrogenase (GCDH) deficiency, characterized by the buildup of toxic organic acids predominantly in the brain. After acute
Calcagnotto, Maria Elisa, Caus, Letícia Barbieri, Pasquetti, Mayara Vendramin, Seminotti, Bianca, Wajner, Moacir, Woontner, Michael   +5 more
core  

Diagnosis and Genetic Analysis of Glutaric Acidaemia Type I : Very rarely seen inborn error of metabolism [PDF]

, 2015
N
Murki, Srinivas, Pandita, Aakash, Pratap, Oleti T., Sharma, Deepak, Vasikarla, Madhavi   +4 more
core   +3 more sources

Additional file 1 of Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening

, 2021
Additional file 1: Table S1. In silico prediction and analysis of the novel GCDH variants identified by our team..
Lin, Yiming, Wang, Wenjun, Lin, Chunmei, Zheng, Zhenzhu, Fu, Qingliu, Peng, Weilin, Chen, Dongmei   +6 more
openaire   +1 more source

Spectrum of inborn errors of metabolism: a tertiary hospital-based study in Egypt

Egyptian Pediatric Association Gazette
Background Inborn errors of metabolism (IEM) are a phenotypically and genetically variable group of diseases produced by a variety of disorders in the metabolic pathway.
Shimaa Anwar Mohamed Anwar, Fatma Mohamed Kamel, Iman Mohamed Marzouk, Doaa Nabil Abd Elrhman Hassan, Omneya Magdy Omar   +4 more
doaj   +1 more source

Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients: Six years experience [PDF]

, 2009
Objective: To determine the prevalence and types of inborn errors of amino acid or organic acid metabolism in a group of high risk Egyptian children with clinical signs and symptoms suggestive of inherited metabolic diseases.
Boehles, H, Fateen, E, Gouda, A, Sewell, A   +3 more
core   +1 more source