Recognizable phenotypes in CDG
نویسندگان
چکیده
منابع مشابه
Recognizable phenotypes associated with intracranial calcification.
AIM In this observational study, we adopted a systematic approach to the radiological phenotyping of disorders associated with intracranial calcification, with the aim of determining if characteristic patterns could be defined as an aid to the future diagnosis of known conditions and the identification of new disorders. METHOD A cranial imaging-based scoring system was devised using both comp...
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Intracranial calcification (ICC) is a common finding on neuroimaging in paediatric neurology practice. In approximately half of all cases the calcification occurs in damaged, neoplastic, or malformed brain. For the large number of other disorders in which ICC occurs, no common pathogenetic mechanism can be suggested. Congenital infection, particularly with cytomegalovirus, accounts for a signif...
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Semigroups in which every principal congruence is of finite index are studied in this paper.
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2018
ISSN: 0141-8955,1573-2665
DOI: 10.1007/s10545-018-0156-5