Literature DB >> 8787432

Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome.

M Pineda1, C Pavia, M A Vilaseca, I Ferrer, T Temudo, A Chabas, H Stibler, J Jaeken.   

Abstract

A girl is reported who presented with many of the clinical and biochemical characteristics of type I carbohydrate deficient glycoprotein syndrome. Unusually, however, she experienced a normal pubertal development.

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Year:  1996        PMID： 8787432      PMCID： PMC1511428          DOI： 10.1136/adc.74.3.242

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  6 in total

Review 1.  The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?

Authors:  J Jaeken; H Carchon; H Stibler
Journal:  Glycobiology       Date:  1993-10       Impact factor: 4.313

2.  Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406.

Authors:  T Martinsson; C Bjursell; H Stibler; B Kristiansson; F Skovby; J Jaeken; G Blennow; P Strömme; F Hanefeld; J Wahlström
Journal:  Hum Mol Genet       Date:  1994-11       Impact factor: 6.150

3.  Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence.

Authors:  F de Zegher; J Jaeken
Journal:  Pediatr Res       Date:  1995-04       Impact factor: 3.756

4.  Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.

Authors:  H Stibler; G Blennow; B Kristiansson; H Lindehammer; B Hagberg
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-05       Impact factor: 10.154

5.  Diagnosis of the carbohydrate-deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots.

Authors:  H Stibler; B Cederberg
Journal:  Acta Paediatr       Date:  1993-01       Impact factor: 2.299

6.  Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome.

Authors:  B Kristiansson; H Stibler; L Wide
Journal:  Acta Paediatr       Date:  1995-06       Impact factor: 2.299
  6 in total
  5 in total

1.  Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.

Authors:  P Briones; M A Vilaseca; E Schollen; I Ferrer; M Maties; C Busquets; R Artuch; L Gort; M Marco; E van Schaftingen; G Matthijs; J Jaeken; A Chabás
Journal:  J Inherit Metab Dis       Date:  2002-12       Impact factor: 4.982

Review 2.  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

3.  Phosphomannomutase deficiency and normal pubertal development.

Authors:  J Artigas; E Cardo; M Pineda; R Nosas; J Jaeken
Journal:  J Inherit Metab Dis       Date:  1998-02       Impact factor: 4.982

4.  Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.

Authors:  J Jaeken; J Artigas; R Barone; A Fiumara; T J de Koning; B T Poll-The; J F de Rijk-van Andel; G F Hoffmann; B Assmann; E Mayatepek; M Pineda; M A Vilaseca; J M Saudubray; B Schlüter; R Wevers; E Van Schaftingen
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

5.  Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

Authors:  G Matthijs; E Schollen; E Van Schaftingen; J J Cassiman; J Jaeken
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025
  5 in total

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