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Article: Isolated sulfite oxidase deficiency in the newborn: Lactic acidaemia and leukoencephalopathy

TitleIsolated sulfite oxidase deficiency in the newborn: Lactic acidaemia and leukoencephalopathy
Authors
Basheer, SNWaters, PJLam, CWAcquavivaBourdain, CHendson, GPoskitt, KHukin, J
KeywordsLactic acidaemia
Leukoencephalopathy
Plasma cystine
Sulfite oxidase deficiency
SUOX gene
Total homocysteine
Issue Date2007
Citation
Neuropediatrics, 2007, v. 38 n. 1, p. 38-41 How to Cite?
DOI: http://dx.doi.org/10.1055/s-2007-981484
AbstractWe report a newborn with progressive leukoencephalopathy and lactic acidaemia, diagnosed with isolated sulfite oxidase deficiency. We show that low plasma total homocysteine (PTHcy) is a valuable early indicator of sulfite oxidase dysfunction, providing a crucial first-line screen, whereas plasma cystine is not always informative in the first few days of life. © Georg Thieme Verlag KG Stuttgart.
Persistent Identifierhttp://hdl.handle.net/10722/148520
ISSN
0174-304X
2023 Impact Factor: 1.1
2023 SCImago Journal Rankings: 0.460
ISI Accession Number ID
WOS:000247999000010
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorBasheer, SNen_US
dc.contributor.authorWaters, PJen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorAcquavivaBourdain, Cen_US
dc.contributor.authorHendson, Gen_US
dc.contributor.authorPoskitt, Ken_US
dc.contributor.authorHukin, Jen_US
dc.date.accessioned2012-05-29T06:13:28Z-
dc.date.available2012-05-29T06:13:28Z-
dc.date.issued2007en_US
dc.identifier.citationNeuropediatrics, 2007, v. 38 n. 1, p. 38-41en_US
dc.identifier.issn0174-304Xen_US
dc.identifier.urihttp://hdl.handle.net/10722/148520-
dc.description.abstractWe report a newborn with progressive leukoencephalopathy and lactic acidaemia, diagnosed with isolated sulfite oxidase deficiency. We show that low plasma total homocysteine (PTHcy) is a valuable early indicator of sulfite oxidase dysfunction, providing a crucial first-line screen, whereas plasma cystine is not always informative in the first few days of life. © Georg Thieme Verlag KG Stuttgart.en_US
dc.languageengen_US
dc.relation.ispartofNeuropediatricsen_US
dc.subjectLactic acidaemia-
dc.subjectLeukoencephalopathy-
dc.subjectPlasma cystine-
dc.subjectSulfite oxidase deficiency-
dc.subjectSUOX gene-
dc.subjectTotal homocysteine-
dc.subject.meshAcidosis, Lactic - Blood - Diagnosis - Etiologyen_US
dc.subject.meshBrain Diseases - Blood - Diagnosis - Etiologyen_US
dc.subject.meshHomocysteine - Blooden_US
dc.subject.meshHumansen_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshLactic Acid - Blooden_US
dc.subject.meshMaleen_US
dc.subject.meshSulfite Oxidase - Deficiencyen_US
dc.titleIsolated sulfite oxidase deficiency in the newborn: Lactic acidaemia and leukoencephalopathyen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1055/s-2007-981484en_US
dc.identifier.pmid17607604en_US
dc.identifier.scopuseid_2-s2.0-34547743915en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-34547743915&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume38en_US
dc.identifier.issue1en_US
dc.identifier.spage38en_US
dc.identifier.epage41en_US
dc.identifier.isiWOS:000247999000010-
dc.publisher.placeGermanyen_US
dc.identifier.issnl0174-304X-

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