Renal involvement in PMM2-CDG, a mini-review-Reference-Cited by-同舟云学术

Renal involvement in PMM2-CDG, a mini-review

Published:2018-03 Issue:3 Volume:123 Page:292-296
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Altassan Ruqaiah,Witters Peter^ORCID,Saifudeen Zubaida,Quelhas Dulce,Jaeken Jaak,Levtchenko Elena,Cassiman David,Morava Eva

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference46 articles.

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2. Postmortem findings in two patients with the carbohydrate-deficient glycoprotein syndrome;Strømme;Acta Paediatr. Scand. Suppl.,1991

3. Clinical presentation and natural course of the carbohydrate-deficient glycoprotein syndrome;Jaeken;Acta Paediatr.,1991

4. Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay;Hutchesson;Arch. Dis. Child.,1995

5. Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome;van der Knaap;J. Inherit. Metab. Dis.,1996

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