Literature DB >> 8739978

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

D Skladal1, W Sperl, H Henry, C Bachmann.   

Abstract

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Year:  1996        PMID： 8739978     DOI： 10.1007/bf01799442

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


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  2 in total

1.  Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis?

Authors:  H H Harrison; K L Miller; M D Harbison; A E Slonim
Journal:  Clin Chem       Date:  1992-07       Impact factor: 8.327

2.  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
  2 in total
  3 in total

1.  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

2.  ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.

Authors:  Daniah Albokhari; Bobby G Ng; Alis Guberinic; Earnest James Paul Daniel; Nicole M Engelhardt; Rita Barone; Agata Fiumara; Livia Garavelli; Gabriele Trimarchi; Lynne Wolfe; Kimiyo M Raymond; Eva Morava; Miao He; Hudson H Freeze; Christina Lam; Andrew C Edmondson
Journal:  J Inherit Metab Dis       Date:  2022-06-30       Impact factor: 4.750

Review 3.  ALG8-CDG: novel patients and review of the literature.

Authors:  Michaela Höck; Karina Wegleiter; Elisabeth Ralser; Ursula Kiechl-Kohlendorfer; Sabine Scholl-Bürgi; Christine Fauth; Elisabeth Steichen; Karin Pichler; Dirk J Lefeber; Gert Matthjis; Liesbeth Keldermans; Kathrin Maurer; Johannes Zschocke; Daniela Karall
Journal:  Orphanet J Rare Dis       Date:  2015-06-12       Impact factor: 4.123
  3 in total

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