Literature DB >> 9501275

Phosphomannomutase deficiency and normal pubertal development.

J Artigas1, E Cardo, M Pineda, R Nosas, J Jaeken.   

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Year:  1998        PMID： 9501275     DOI： 10.1023/a:1005323700680

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


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  3 in total

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

Authors:  M Pineda; C Pavia; M A Vilaseca; I Ferrer; T Temudo; A Chabas; H Stibler; J Jaeken
Journal:  Arch Dis Child       Date:  1996-03       Impact factor: 3.791

2.  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

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
  3 in total
  3 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

Review 3.  Recognizable phenotypes in CDG.

Authors:  Carlos R Ferreira; Ruqaia Altassan; Dorinda Marques-Da-Silva; Rita Francisco; Jaak Jaeken; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2018-04-13       Impact factor: 4.982
  3 in total

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