Literature DB >> 8096285

Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus.

P Clayton, B Winchester, E Di Tomaso, E Young, G Keir, C Rodeck.   

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Year:  1993        PMID： 8096285     DOI： 10.1016/0140-6736(93)91244-g

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  19 in total

Review 1.  New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system.

Authors:  Bradley S Miller; Hudson H Freeze
Journal:  Rev Endocr Metab Disord       Date:  2003-03       Impact factor: 6.514

2.  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

Review 3.  Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Authors:  Christine Vianey-Saban; Cécile Acquaviva; David Cheillan; Sophie Collardeau-Frachon; Laurent Guibaud; Cécile Pagan; Magali Pettazzoni; Monique Piraud; Antonin Lamazière; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2016-07-08       Impact factor: 4.982

4.  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

5.  Carbohydrate-deficient transferrin values in neonatal and umbilical cord blood.

Authors:  J van Pelt; J A Bakker; M H Velmans; L J Spaapen
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

6.  Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Authors:  J Jaeken; G Matthijs; R Barone; H Carchon
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

Review 7.  Carbohydrate-deficient glycoprotein syndromes.

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

8.  Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

Authors:  F Imtiaz; V Worthington; M Champion; C Beesley; J Charlwood; P Clayton; G Keir; N Mian; B Winchester
Journal:  J Inherit Metab Dis       Date:  2000-03       Impact factor: 4.982

9.  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

10.  Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

Authors:  J Jaeken
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
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