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PMM2-CDG and nephrotic syndrome: a case report.
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  • Giuseppe Banderali,
  • Elisabetta Salvatici,
  • Valentina Rovelli,
  • Jaak Jaeken
Giuseppe Banderali
San Paolo University Hospital

Corresponding Author:[email protected]

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Elisabetta Salvatici
San Paolo University Hospital
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Valentina Rovelli
San Paolo University Hospital
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Jaak Jaeken
KU Leuven University Hospitals Leuven Gasthuisberg Campus
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CDG are a group of diseases altering the glycosylation process. Enzymes involved have ubiquitous distribution with systemic involvement and high phenotypic variability. We report the case of a girl with central hypotonia, epilepsy and severe psychomotor delay diagnosed with phosphomannomutase 2 deficiency (PMM2-CDG) after presenting with nephrotic syndrome.
03 Dec 2021Submitted to Clinical Case Reports
04 Dec 2021Submission Checks Completed
04 Dec 2021Assigned to Editor
09 Dec 2021Reviewer(s) Assigned
29 Dec 2021Review(s) Completed, Editorial Evaluation Pending
02 Jan 2022Editorial Decision: Revise Minor
03 Jan 20221st Revision Received
08 Jan 2022Submission Checks Completed
08 Jan 2022Assigned to Editor
08 Jan 2022Review(s) Completed, Editorial Evaluation Pending
14 Jan 2022Editorial Decision: Accept
Feb 2022Published in Clinical Case Reports volume 10 issue 2. 10.1002/ccr3.5347