Zobrazeno 1 - 10 of 310 pro vyhledávání: '"J.E. Wraith"'
1
Lysosomal disorders
Autor: J.E. Wraith
Publikováno v: Paediatrics and Child Health. 21:76-79
Although most lysosomal storage disorders present in infancy or early childhood with a progressive condition often associated with dysmorphism, considerable genetic heterogeneity exists resulting in a range of illnesses that can include a dramatic ne
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d685dee8a10bed9d2d63c72723db09e
https://doi.org/10.1016/j.paed.2010.08.012
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2
Facial appearance in glycogen storage disease type III
Autor: J.H. Walter, M.A. Cleary, B.A. Kerr, J.E. Wraith
Publikováno v: Clinical Dysmorphology. 11:117-120
Amylo-1,6-glucosidase deficiency (glycogen storage disease type III) is associated with hypoglycaemia, hepatomegaly, raised transaminases and in most cases skeletal myopathy and cardiomyopathy. The disorder has not been considered to cause dysmorphis
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::675b27ebf10327b1fefa81a5a115cc20
https://doi.org/10.1097/00019605-200204000-00008
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4
Optic atrophy in association with cobalamin C (cblC) disease
Autor: J.E. Wraith, N. Patton, S. Beatty, I.C. Lloyd
Publikováno v: Ophthalmic Genetics. 21:151-154
Purpose: To report the association of optic atrophy with cobalamin C (cblC) disease. Methods: Descriptive case reports on three patients, two of whom were siblings. Results: All three patients with cblC disease exhibited bilateral optic atrophy with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::813bb47fca22488af6ac7813ce288bd0
https://doi.org/10.1076/1381-6810(200009)21:3
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