Literature DB >> 8777936

Carbohydrate deficient glycoprotein syndrome--like transferrin isoelectric focusing pattern in untreated fructosaemia.

M Adamowicz, E Pronicka.   

Abstract

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Year:  1996        PMID： 8777936     DOI： 10.1007/bf02002730

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


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  6 in total

1.  Serum lysosomal enzyme abnormalities in galactosaemia.

Authors:  J Jaeken; J Kint; L Spaapen
Journal:  Lancet       Date:  1992-12-12       Impact factor: 79.321

Review 2.  The carbohydrate-deficient glycoprotein syndromes: an overview.

Authors:  J Jaeken; H Carchon
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 3.  Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders.

Authors:  B A Hagberg; G Blennow; B Kristiansson; H Stibler
Journal:  Pediatr Neurol       Date:  1993 Jul-Aug       Impact factor: 3.372

4.  Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency.

Authors:  K S Ornstein; E J McGuire; G T Berry; S Roth; S Segal
Journal:  Pediatr Res       Date:  1992-05       Impact factor: 3.756

5.  The structural heterogeneity of the carbohydrate moiety of desialylated human transferrin.

Authors:  L März; M W Hatton; L R Berry; E Regoeczi
Journal:  Can J Biochem       Date:  1982-06

Review 6.  Carbohydrate-deficient transferrin in serum: a new marker of potentially harmful alcohol consumption reviewed.

Authors:  H Stibler
Journal:  Clin Chem       Date:  1991-12       Impact factor: 8.327
  6 in total
  9 in total

Review 1.  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

2.  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

3.  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

4.  Improvement of CDG diagnosis by combined examination of several glycoproteins.

Authors:  J Fang; V Peters; B Assmann; C Körner; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

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

Review 6.  The congenital disorders of glycosylation: a multifaceted group of syndromes.

Authors:  Erik A Eklund; Hudson H Freeze
Journal:  NeuroRx       Date:  2006-04

7.  Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.

Authors:  Melanie A Jones; Shruti Bhide; Ephrem Chin; Bobby G Ng; Devin Rhodenizer; Victor W Zhang; Jessica J Sun; Alice Tanner; Hudson H Freeze; Madhuri R Hegde
Journal:  Genet Med       Date:  2011-11       Impact factor: 8.822

8.  Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance.

Authors:  Fabiola Di Dato; Simona Spadarella; Maria Giovanna Puoti; Maria Grazia Caprio; Severo Pagliardini; Claudia Zuppaldi; Gianfranco Vallone; Simona Fecarotta; Gabriella Esposito; Raffaele Iorio; Giancarlo Parenti; Maria Immacolata Spagnuolo
Journal:  Nutrients       Date:  2019-10-07       Impact factor: 5.717

9.  Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.

Authors:  Anna Bogdańska; Patryk Lipiński; Paulina Szymańska-Rożek; Aleksandra Jezela-Stanek; Dariusz Rokicki; Piotr Socha; Anna Tylki-Szymańska
Journal:  Orphanet J Rare Dis       Date:  2021-01-06       Impact factor: 4.123
  9 in total

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