Literature DB >> 9266378

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

J Jaeken1, 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.   

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Year:  1997        PMID： 9266378     DOI： 10.1023/a:1005331523477

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


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  10 in total

1.  The carbohydrate deficient glycoprotein syndrome in three Japanese children.

Authors:  K Ohno; I Yuasa; S Akaboshi; M Itoh; K Yoshida; H Ehara; Y Ochiai; K Takeshita
Journal:  Brain Dev       Date:  1992-01       Impact factor: 1.961

2.  Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome.

Authors:  D Skladal; W Sperl; H Henry; C Bachmann
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  [Protein glycosylation deficiency: clinical presentation].

Authors:  H Ogier de Baulny; F Poggi-Travert; M Besnard; J M Saudubray
Journal:  Arch Pediatr       Date:  1996       Impact factor: 1.180

4.  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

5.  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

6.  Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

Authors:  L Pavone; A Fiumara; R Barone; R Rizzo; P Buttitta; W B Dobyns; J Jaeken
Journal:  J Neurol       Date:  1996-10       Impact factor: 4.849

7.  Carbohydrate-deficient glycoprotein syndrome with previously unreported features.

Authors:  F Eyskens; C Ceuterick; J J Martin; G Janssens; J Jaeken
Journal:  Acta Paediatr       Date:  1994-08       Impact factor: 2.299

8.  Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome.

Authors:  M S van der Knaap; R A Wevers; L Monnens; C Jakobs; J Jaeken; J A van Wijk
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

9.  Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.

Authors:  E Van Schaftingen; J Jaeken
Journal:  FEBS Lett       Date:  1995-12-27       Impact factor: 4.124

10.  Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome.

Authors:  P T Clayton; B G Winchester; G Keir
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982
  10 in total
  17 in total

1.  Carbohydrate-deficient glycoprotein syndromes: the Italian experience.

Authors:  M Di Rocco; R Barone; A Adami; A Burlina; M Carrozzi; C Dionisi-Vici; R Gatti; P Iannetti; R Parini; U Raucci; M Roccella; M Spada; A Fiumara
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  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

3.  A six-month-old infant with liver steatosis.

Authors:  Michael O Stormon; Ernest Cutz; Katryn Furuya; Melanie Bedford; Laura Yerkes; Dean R Tolan; Annette Feigenbaum
Journal:  J Pediatr       Date:  2004-02       Impact factor: 4.406

4.  The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a.

Authors:  P Feraco; M Mirabelli-Badenier; M Severino; M G Alpigiani; M Di Rocco; R Biancheri; A Rossi
Journal:  AJNR Am J Neuroradiol       Date:  2012-06-21       Impact factor: 3.825

5.  The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I).

Authors:  B Kristiansson; H Stibler; N Conradi; B O Eriksson; W Ryd
Journal:  J Inherit Metab Dis       Date:  1998-04       Impact factor: 4.982

6.  Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).

Authors:  R Barone; H Carchon; E Jansen; L Pavone; A Fiumara; N U Bosshard; R Gitzelmann; J Jaeken
Journal:  J Inherit Metab Dis       Date:  1998-04       Impact factor: 4.982

7.  High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Authors:  S Grünewald; E Schollen; E Van Schaftingen; J Jaeken; G Matthijs
Journal:  Am J Hum Genet       Date:  2001-01-11       Impact factor: 11.025

8.  The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.

Authors:  B Pérez; P Briones; D Quelhas; R Artuch; A I Vega; E Quintana; L Gort; M J Ecay; G Matthijs; M Ugarte; C Pérez-Cerdá
Journal:  JIMD Rep       Date:  2011-06-22

Review 9.  Carbohydrate-deficient glycoprotein syndromes.

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

Review 10.  Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery.

Authors:  Belen Pérez; Lluisa Vilageliu; Daniel Grinberg; Lourdes R Desviat
Journal:  Nucleic Acid Ther       Date:  2014-02       Impact factor: 5.486
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