Literature DB >> 16941129

Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings.

Donald Wurm1, Andrea Hänsgen, Yoo-Jin Kim, Angelika Lindinger, Ali Baghai, Ludwig Gortner.   

Abstract

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Year:  2006        PMID： 16941129     DOI： 10.1007/s00431-006-0240-y

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  5 in total

1.  Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).

Authors:  H Böhles; A A Sewell; B Gebhardt; A Reinecke-Lüthge; G Klöppel; T Marquardt
Journal:  J Inherit Metab Dis       Date:  2001-12       Impact factor: 4.982

2.  Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

Authors:  G Matthijs; E Schollen; C Bjursell; A Erlandson; H Freeze; F Imtiaz; S Kjaergaard; T Martinsson; M Schwartz; N Seta; S Vuillaumier-Barrot; V Westphal; B Winchester
Journal:  Hum Mutat       Date:  2000-11       Impact factor: 4.878

3.  A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

Authors:  P de Lonlay; N Seta; S Barrot; B Chabrol; V Drouin; B M Gabriel; H Journel; M Kretz; J Laurent; M Le Merrer; A Leroy; D Pedespan; P Sarda; N Villeneuve; J Schmitz; E van Schaftingen; G Matthijs; J Jaeken; C Korner; A Munnich; J M Saudubray; V Cormier-Daire
Journal:  J Med Genet       Date:  2001-01       Impact factor: 6.318

4.  Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema.

Authors:  Vera Noelle; Matthias Knuepfer; Ferdinand Pulzer; Volker Schuster; Werner Siekmeyer; Gert Matthijs; Christoph Vogtmann
Journal:  Eur J Pediatr       Date:  2005-01-12       Impact factor: 3.183

Review 5.  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
  5 in total
  2 in total

1.  Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency

Authors:  Doğuş Vurallı; Yılmaz Yıldız; Alev Ozon; Ali Dursun; Nazlı Gönç; Ayşegül Tokatlı; H Serap Sivri; Ayfer Alikaşifoğlu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2022-03-21

2.  Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation.

Authors:  Patryk Lipiński; Anna Bogdańska; Piotr Socha; Anna Tylki-Szymańska
Journal:  Front Pediatr       Date:  2021-07-05       Impact factor: 3.418
  2 in total

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