Zobrazeno 1 - 10
of 297
pro vyhledávání: '"Urine organic acids"'
Autor:
Monika Williams, Iskren Menkovic, Pamela Reitnauer, Eileen Gilbert, Dwight Koeberl, Sarah P. Young, Ashlee R. Stiles
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101062- (2024)
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis caused by biallelic pathogenic variants in HMGCS2. Clinical symptoms are precipitated by prolonged fasting an
Externí odkaz:
https://doaj.org/article/9318d626e74e4516b096a145643dc2c0
Autor:
Ester Perales‐Clemente, Angela L. Hewitt, April L. Studinski, Jan‐Mendelt Tillema, William J. Laxen, Devin Oglesbee, Arne H. Graff, Piero Rinaldo, Brendan C. Lanpher
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 21-28 (2021)
Abstract Introduction Nonaccidental trauma (NAT) is considered when pediatric patients present with intracranial injuries and a negative history of an accidental injury or concomitant medical diagnosis. The evaluation of NAT should include the consid
Externí odkaz:
https://doaj.org/article/051f413ccae14ef8906e30cecd0550a0
Autor:
Baiyu Chen, Yalan Zhan, Miriam Kessi, Shimeng Chen, Juan Xiong, Xiaolu Deng, Lifen Yang, Jing Peng, Fei Yin, Fang He
Publikováno v:
Frontiers in Molecular Biosciences, Vol 8 (2021)
Objective: The purpose of this study was to search for differential metabolites in urine organic acids, and to characterize metabolic features that can be used to identify metabolites for exploration of global developmental delay (GDD)/intellectual d
Externí odkaz:
https://doaj.org/article/a1858b224ef14bd9903688107dc13316
Akademický článek
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Publikováno v:
Frontiers in Cellular Neuroscience, Vol 13 (2019)
Externí odkaz:
https://doaj.org/article/6ba216c4dd33420faa54c751b02b7dc1
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 13 (2019)
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that lacks clear biological biomarkers. Existing diagnostic methods focus on behavioral and performance characteristics, which complicates the diagnosis of patients younger than 3 years-
Externí odkaz:
https://doaj.org/article/7085c54f92f842d7b6d122db76ff2222
Autor:
Piero Rinaldo, Devin Oglesbee, Angela L. Hewitt, William Laxen, April Studinski, Jan Mendelt Tillema, Ester Perales-Clemente, Arne H. Graff, Brendan C. Lanpher
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 21-28 (2021)
JIMD Reports
JIMD Reports
Introduction Nonaccidental trauma (NAT) is considered when pediatric patients present with intracranial injuries and a negative history of an accidental injury or concomitant medical diagnosis. The evaluation of NAT should include the consideration o
Autor:
Yeow-Kuan Chong, Lai-Ka Lee, Tsz-ki Ling, Han-Chih Hencher Lee, Chun-Hung Ko, Candace Yim Chan, Ching-Wan Lam, Chloe Mak, Nike Kwai-Cheung Lau, Cheuk-Wing Fung, Sheila Suet-Na Wong, Sidney Tam, Chun-yiu Law, K M Cheung, Chi-Kong Lai, Kin-Cheong Eric Yau, Albert Y W Chan, Ka-chung Wong
Publikováno v:
Clinica Chimica Acta. 521:40-44
Background Aromatic L-amino acid decarboxylase deficiency is a rare neurometabolic disease due to impaired decarboxylation of neurotransmitter precursors to its active form. Case: We retrospectively reviewed 8 cases from 2008 to 2019 with cerebrospin
Publikováno v:
Journal of Zhejiang University (Medical Sciences). 50:454-462
Objective: To investigate the incidence rate, clinical and gene mutation characteristics of multiple acyl-CoA dehydrogenase deficiency (MADD) in newborns in Zhejiang province. Methods: A total of 3 896 789 newborns were screened for MADD using tandem
Publikováno v:
Zhejiang Da Xue Xue Bao Yi Xue Ban
OBJECTIVE: To compare the clinical and genetic characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and idiopathic neonatal cholestasis (INC). METHODS: The clinical data of 30 patients with NICCD and