Search Results - "van Hellenberg Hubar, J L"

MELAS syndrome. Report of two patients, and comparison with data of 24 patients derived from the literature by van Hellenberg Hubar, J L, Gabreëls, F J, Ruitenbeek, W, Sengers, R C, Renier, W O, Thijssen, H O, ter Laak, H J

“…We present two unrelated MELAS patients, and compare them with 24 patients derived from the literature. In most patients the stroke-like features of the MELAS…”
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Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system by Wevers, R A, Hansen, S I, van Hellenberg Hubar, J L, Holm, J, Høier-Madsen, M, Jongen, P J

“…An adult male patient of Dutch ancestry has a slowly progressive neurological disease characterised by a cerebellar syndrome, distal spinal muscular atrophy,…”
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Cerebrotendinous xanthomatosis by van Hellenberg Hubar, J L, Joosten, E M, Wevers, R A

“…Cerebrotendinous xanthomatosis (CTX) is a familial sterol storage disease based on an inborn error of metabolism involving bile acid synthesis. Predominant…”
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