Results 21 to 30 of about 4,590,707 (207)

Clinical phenotype and gene mutation of short-chain acyl-coenzyme A dehydrogenase deficiency in a Chinese family

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To analyze the clinical phenotype and genetic characteristics of short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD). Methods and Results The proband was one month and 14 days old girl, who presented mental and motor retardation ...
Xin-na JI, Ying-ying MAO, Zhi-jie GAO, Bo-jing TAN, Yun-lin LI, Ke-ming XU, Qian CHEN, Shu-hua CHEN   +7 more
doaj   +1 more source

AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet [PDF]

Healthcare Informatics Research
Objectives Disorders of amino acid metabolism fall under the category of inborn errors of metabolism that can be managed with a protein-restricted diet.
Bianca Fasolo Franceschetto, Júlia Montim Orlandi, Wanessa de Carvalho Rosa, Mariana Lima Scortegagna, Lilia Farret, Ida V. D. Schwartz, Soraia Poloni   +6 more
doaj   +1 more source

Earwax: A potentially useful medium to identify inborn errors of metabolism?

JIMD Reports, 2020
Earwax was investigated as a source to identify patients' different inborn errors of metabolism (IEMs). Acylcarnitines, amino acids, and guanidino metabolites were measured from 28 treated patients with 11 different metabolic disorders including 3 ...
Stefan Krywawych, Maureen Cleary, Mel McSweeney, Simon Heales   +3 more
doaj   +1 more source

Clinical pathways for inborn errors of metabolism: warranted and feasible [PDF]

, 2013
Contains fulltext : 118156.pdf (Publisher’s version ) (Open Access)Inborn errors of metabolism (IEMs) are known for their low prevalence and multidisciplinary care mostly founded on expert opinion.
van Kessel Imke N, van Kessel, Imke N., Bosch Annet M, Bosch, Annet M., Korndewal Marjolein J, Meutgeert Hanka, Hollak, Carla E. M., Kessel, I.N. van, Bosch, A.M., Janssen, M.C.H., Morava, E., Marjolein J Korndewal, Imke N van Kessel, Serwet Demirdas, Demirdas, Serwet, Klaren, Anja, Spronsen, F.J. van, Anja Klaren, Hollak, C.E.M., Margreet van Rijn, Rijn, M. van de, Carla EM Hollak, van Rijn Margreet, Meutgeert, Hanka, van Rijn, Margreet, Hanka Meutgeert, van Spronsen Francjan J, Klaren, A., Meutgeert, H., Korndewal, Marjolein J., Korndewal, M.J., null null, Demirdas, S., Klaren Anja, Francjan J van Spronsen, Annet M Bosch, Hollak Carla EM, van Spronsen, Francjan J., et al., Demirdas Serwet   +39 more
core   +1 more source

Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans

Cell Reports, 2019
Summary: Inborn errors of metabolism (IEMs) link metabolic defects to human phenotypes. Modern genomics has accelerated IEM discovery, but assessing the impact of genomic variants is still challenging.
Min Ni, Ashley Solmonson, Chunxiao Pan, Chendong Yang, Dan Li, Ashley Notzon, Ling Cai, Gerardo Guevara, Lauren G. Zacharias, Brandon Faubert, Hieu S. Vu, Lei Jiang, Bookyung Ko, Noriko Merida Morales, Jimin Pei, Gonçalo Vale, Dinesh Rakheja, Nick V. Grishin, Jeffrey G. McDonald, Garrett K. Gotway, Markey C. McNutt, Juan M. Pascual, Ralph J. DeBerardinis   +22 more
doaj   +1 more source

The importance of plasma amino acid profiling in the diagnosis of inborn errors of metabolism [PDF]

, 2021
Institute of Mother and ChildIntroduction: Inborn errors of metabolism (IEM) make up a large group of disorders caused by an inherited defect of proteins that have enzymatic, carrier, receptor or structural roles.
Efremov, Egor, Blăniță, Daniela, Hlistun, Victoria, Boiciuc, Chiril, Ușurelu, Natalia   +4 more
core   +1 more source

Amino acid metabolism and disease

, 2023
4 p.The origin of life is still a matter of debate, and several hypotheses have been proposed to explain how the building blocks leading to the minimal cell were formed [1], with the amino acids among them. However, when considering their role, the first
Pajares, María Ángeles, María Ángeles Pajares   +1 more
core   +1 more source

Amino Acids and Inherited Amino Acid-Related Disorders

, 2018
Amino acids perform multiple essential physiological roles in humans, and accordingly, their importance to health has been the subject of extensive attention.
Bernstein, Laurie, O’Sullivan, Siobhan, Ellen Crushell, Jörn Oliver Sass, Laurie Bernstein, Siobhan O’Sullivan, Knerr, Ina, Sass, Jörn Oliver, Crushell, Ellen, Ina Knerr   +9 more
core   +1 more source

Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional Case. [PDF]

JIMD Rep
ABSTRACT Dual inherited defects affecting urea cycle function are exceptionally rare. We report the first case, to our knowledge, of the coexistence of argininosuccinic aciduria (ASA) and citrin deficiency (CD). A girl born to consanguineous Tunisian parents presented at 6 months of age with recurrent seizures, vomiting, developmental delay, and severe
Zribi M, Bhouri M, Khatrouch S, Boudabous H, Häberle J, Abdelmoula MS, Chehida AB.   +6 more
europepmc   +2 more sources

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions: A Diagnostic Algorithm With Focus on Treatable Conditions [PDF]

, 2018
Although inborn errors of metabolism do not represent the most common cause of seizures, their early identification is of utmost importance, since many will require therapeutic measures beyond that of common anti-epileptic drugs, either in order to ...
Nenad Blau, Carlos R. Ferreira, Horvath, Gabriella A, Bryan Sayson, Horvath, Gabriella A., Carlos R. Ferreira (6035918), Jessica J. Y. Lee, van Karnebeek, Clara D M, van Karnebeek, Clara D. M., Nenad Blau (3664690), Tseng, Laura A, Sayson, Bryan, Gabriella A. Horvath, Bryan Sayson (6035906), Gabriella A. Horvath (6035915), Ferreira, Carlos R, Ferreira, Carlos R., Clara D. M. van Karnebeek, Clara D. M. van Karnebeek (6035903), Lee, Jessica J Y, Lee, Jessica J. Y., Tseng, Laura A., Blau, Nenad, Jessica J. Y. Lee (6035909), Laura A. Tseng (6035912), Laura A. Tseng   +25 more
core   +1 more source