Literature DB >> 25073245

Sulfite oxidase deficiency in a newborn.

H Westerlinck, L Meylaerts, M R Van Hoestenberghe, A Rossi.   

Abstract

Isolated sulfite oxidase deficiency is a rare, autosomal recessive disease with a very poor prognosis. This condition usually presents in the neonatal period and is mainly characterized by neurological abnormalities, including refractory seizures, abnormal muscle tone, abnormal movements, and marked developmental delay. The differentiation from hypoxic-ischemic encephalopathy is difficult based on clinical findings alone. We present a neonatal case

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Year:  2014        PMID: 25073245     DOI: 10.5334/jbr-btr.40

Source DB:  PubMed          Journal:  JBR-BTR        ISSN: 0302-7430


  4 in total

Review 1.  Isolated sulfite oxidase deficiency.

Authors:  Helena Claerhout; Peter Witters; Luc Régal; Katrien Jansen; Marie-Rose Van Hoestenberghe; Jeroen Breckpot; Pieter Vermeersch
Journal:  J Inherit Metab Dis       Date:  2017-10-04       Impact factor: 4.982

2.  Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.

Authors:  Maha S Zaki; Laila Selim; Hala T El-Bassyouni; Mahmoud Y Issa; Iman Mahmoud; Samira Ismail; Mariane Girgis; Abdelrahim A Sadek; Joseph G Gleeson; Mohamed S Abdel Hamid
Journal:  Eur J Paediatr Neurol       Date:  2016-05-30       Impact factor: 3.140

3.  Prenatal brain disruption in isolated sulfite oxidase deficiency.

Authors:  Hsiu-Fen Lee; Ching-Shiang Chi; Chi-Ren Tsai; Hung-Chieh Chen; I-Chun Lee
Journal:  Orphanet J Rare Dis       Date:  2017-06-19       Impact factor: 4.123

4.  Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency - a case report and literature review.

Authors:  Andreea M Pavel; Carol M Stephens; Sean R Mathieson; Brian H Walsh; Brian McNamara; Niamh McSweeney; Geraldine B Boylan
Journal:  HRB Open Res       Date:  2021-11-23
  4 in total

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