## Abstract Impaired glucose transport across the bloodβbrain barrier results in Glutβ1 deficiency syndrome (Glutβ1 DS, OMIM 606777), characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypoglycorrhachia. We studied 16 new Glutβ1 deficiency syndr
Clinical and genetic aspects of antithrombin III deficiency
β Scribed by Halal, Fahed ;Quenneville, Guy ;Laurin, Suzanne ;Loulou, Ginette ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 700 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
β¦ Synopsis
We have reviewed the clinical data on 120 individuals (from four personally studied families and 14 families from the literature) with inherited symptomatic antithrombin I11 deficiency in order to obtain information useful for genetic counseling and short-and long-term prophylaxis in heterozygotes of the mutant gene.
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## Communicated by Johannes Zschocke We retrospectively examined clinical and biochemical characteristics of 27 patients with isolated enzymatic complex I deficiency (established in cultured skin fibroblasts) in whom common pathogenic mtDNA point mutations and major rearrangements were absent. Clin