Continuation of pegvaliase treatment during pregnancy: A case report

Autor: Monica Boyer, Janette Skaar, Mary Sowa, Justin R. Tureson, Cristel C. Chapel-Crespo, Richard Chang

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100713- (2021)

Phenylalanine hydroxylase (PAH) deficiency is an inborn error of phenylalanine (Phe) metabolism that results in the buildup of dietary Phe to potentially toxic levels. Poorly controlled Phe levels in women of childbearing age are particularly worriso

Externí odkaz: https://doaj.org/article/fed530e471ef49c2b7bf7a52f0e54a81

Isolated Sulfite Oxidase Deficiency: Response to Dietary Treatment in a Patient with Severe Neonatal Presentation

Autor: Monica Boyer, Mary Sowa, Raymond Wang, Jose Abdenur

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)

Abstract Isolated sulfite oxidase deficiency (ISOD) is a devastating, neurometabolic disorder caused by mutations in the SUOX gene necessary for the final step in the sulfur-containing amino acid catabolic pathway. Patients classically present in the

Externí odkaz: https://doaj.org/article/5dc3f0231319469cb2fbfab167449cb2

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Autor: Laura A. Tseng, Jose E. Abdenur, Ashley Andrews, Verena G. Aziz, Levinus A. Bok, Monica Boyer, Daniela Buhas, Hans Hartmann, Emma J. Footitt, Sabine Grønborg, Mirian C.H. Janssen, Nicola Longo, Roelineke J. Lunsing, Alex E. MacKenzie, Frits A. Wijburg, Sidney M. Gospe, Curtis R. Coughlin, Clara D.M. van Karnebeek

Publikováno v: Molecular Genetics and Metabolism, 135, 350-356
Molecular Genetics and Metabolism, 135, 4, pp. 350-356
Molecular Genetics and Metabolism, 135(4), 350-356. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular genetics and metabolism, 135(4), 350-356. Academic Press Inc.

Contains fulltext : 248229.pdf (Publisher’s version ) (Closed access) BACKGROUND: Seventy-five percent of patients with pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) suffer intellectual deve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::907764e252a1a086b2cb348bc7323940
https://doi.org/10.1016/j.ymgme.2022.02.005

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency

Autor: Nicola Longo, Joy Lee, Nanda M. Verhoeven-Duif, Levinus A. Bok, Arushi Gahlot Saini, R. Lilje, Hanka Dekker, Erle Kristensen, Saikat Santra, Peter E. Clayton, Damayanti Rusli Sjarif, Flavia Balbo Piazzon, Clara D.M. van Karnebeek, Johan L.K. Van Hove, Frits A. Wijburg, Monica Boyer, Pasquale Striano, Barbara Plecko, Anibh M. Das, Emma Footitt, Daniela Buhas, Sylvia Stockler-Ipsiroglu, François Feillet, Hans Hartmann, Philippa B. Mills, Laura A. Tseng, François Boemer, Jose E. Abdenur, Athanasios Evangeliou, Curtis R. Coughlin, Catherine Ashmore, Sameer M. Zuberi, Phillip L. Pearl, Roelineke J. Lunsing, Sidney M. Gospe, Majdi Kara, Maria T. Papadopoulou

Publikováno v: Journal of inherited metabolic disease, 44(1), 178-192. Springer Netherlands
Journal of Inherited Metabolic Disease, 44(1), 178-192. SPRINGER

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of alpha-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopath

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd4287a08df287ea8d4a1d7feccc9924
http://hdl.handle.net/11567/1040301

Isolated Sulfite Oxidase Deficiency: Response to Dietary Treatment in a Patient with Severe Neonatal Presentation

Autor: Raymond Y. Wang, Jose E. Abdenur, Mary Sowa, Monica Boyer

Publikováno v: Journal of Inborn Errors of Metabolism and Screening v.7 2019
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
Journal of Inborn Errors of Metabolism and Screening, Volume: 7, Article number: e20190001, Published: 27 JUN 2019

Isolated sulfite oxidase deficiency (ISOD) is a devastating, neurometabolic disorder caused by mutations in the SUOX gene necessary for the final step in the sulfur-containing amino acid catabolic pathway. Patients classically present in the neonatal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daa41442bafe7ce94a40cce89fe1c114
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942019000100304