Literature DB >> 7527215

Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally.

H Stibler1, F Skovby.   

Abstract

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Year:  1994        PMID： 7527215     DOI： 10.1016/0887-8994(94)90097-3

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


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  4 in total

1.  TMEM165 Deficiency: Postnatal Changes in Glycosylation.

Authors:  S Schulte Althoff; M Grüneberg; J Reunert; J H Park; S Rust; C Mühlhausen; Y Wada; R Santer; T Marquardt
Journal:  JIMD Rep       Date:  2015-08-04

2.  Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.

Authors:  J M van de Kamp; D J Lefeber; G J G Ruijter; S J Steggerda; N S den Hollander; S M Willems; G Matthijs; B J H M Poorthuis; R A Wevers
Journal:  J Med Genet       Date:  2006-12-08       Impact factor: 6.318

Review 3.  Carbohydrate-deficient glycoprotein syndromes.

Authors:  N Gordon
Journal:  Postgrad Med J       Date:  2000-03       Impact factor: 2.401

4.  Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia).

Authors:  S Kjaergaard; J Müller; F Skovby
Journal:  Arch Dis Child       Date:  2002-10       Impact factor: 3.791
  4 in total

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