Literature DB >> 9762608

Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome.

T J de Koning1, M Toet, L Dorland, L S de Vries, I E van den Berg, M Duran, B T Poll-The.   

Abstract

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Mesh：

Year:  1998        PMID： 9762608     DOI： 10.1023/a:1005496920435

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  17 in total

1.  Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.

Authors:  Jaak Jaeken; Dirk Lefeber; Gert Matthijs
Journal:  Eur J Hum Genet       Date:  2015-02-04       Impact factor: 4.246

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.  Neurological aspects of human glycosylation disorders.

Authors:  Hudson H Freeze; Erik A Eklund; Bobby G Ng; Marc C Patterson
Journal:  Annu Rev Neurosci       Date:  2015-04-02       Impact factor: 12.449

Review 4.  Congenital disorders of glycosylation.

Authors:  Irene J Chang; Miao He; Christina T Lam
Journal:  Ann Transl Med       Date:  2018-12

5.  Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.

Authors:  Lyndsay A Harshman; Bobby G Ng; Hudson H Freeze; Pamela Trapane; Anna Dolezal; Patrick D Brophy; Jane E Brumbaugh
Journal:  Pediatr Int       Date:  2016-06-21       Impact factor: 1.524

6.  Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

Authors:  Markus Schwarz; Christian Thiel; Jürgen Lübbehusen; Bert Dorland; Tom de Koning; Kurt von Figura; Ludwig Lehle; Christian Körner
Journal:  Am J Hum Genet       Date:  2004-02-16       Impact factor: 11.025

7.  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

Review 8.  Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.

Authors:  T Marquardt; J Denecke
Journal:  Eur J Pediatr       Date:  2003-03-15       Impact factor: 3.183

Review 9.  Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.

Authors:  E J Footitt; A Karimova; M Burch; T Yayeh; T Dupré; S Vuillaumier-Barrot; I Chantret; S E H Moore; N Seta; S Grunewald
Journal:  J Inherit Metab Dis       Date:  2009-09-07       Impact factor: 4.982

10.  Identification and characterization of transcriptional control region of the human beta 1,4-mannosyltransferase gene.

Authors:  Tetsuo Takahashi; Takashi Nedachi; Takuya Etoh; Hiroyuki Tachikawa; Xiao-Dong Gao
Journal:  Cytotechnology       Date:  2015-11-25       Impact factor: 2.058
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