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Volume 24 (2020): Issue 2 (June 2020) Cover

Volume 24 (2020): Issue 2 (Jun 2020)

Journal of Mother and Child
Open Access
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Issue 4 (December 2020)
Issue 3 (September 2020)
Issue 1 (July 2020)
Issue 2 (June 2020)

10 articles
Open Access
|Nov 2020
Editorial
Stephanie Grunewald  
Open Access
|Oct 2020
Advances in diagnosis and management of Pompe disease
James E. Davison  
Open Access
|Nov 2020
An expanding spectrum of complications in isolated methylmalonic aciduria
Patrick Forny and  Stephanie Grunewald  
Open Access
|Nov 2020
Congenital disorders of glycosylation: A multi-genetic disease family with multiple subcellular locations
Jaak Jaeken  
Open Access
|Nov 2020
Hormonal dysfunction in adult patients affected with inherited metabolic disorders
Karolina M. Stepien  
Open Access
|Oct 2020
Primary hyperammonaemia: Current diagnostic and therapeutic strategies
Johannes Häberle  
Open Access
|Oct 2020
When to measure plasma homocysteine and how to place it in context: The homocystinurias
Martina Huemer  
Open Access
|Oct 2020
The switch in the diagnosis of mitochondrial diseases from the classical ‘function first’ to the NGS-based ‘genetics first’ diagnostic era
Wolfgang Sperl,  Saskia Wortmann,  René G. Feichtinger and  Johannes A. Mayr  
Open Access
|Nov 2020
Gene therapy for inherited metabolic diseases
Berna Seker Yilmaz,  Sonam Gurung,  Dany Perocheau,  John Counsell and  Julien Baruteau  
Open Access
|Oct 2020
A holistic approach to the patients/Families with inborn errors of metabolism
Peter Burgard  
eISSN: 2719-535X|ISSN: 2719-6488|Language: English|Publication frequency: 1 time per year
Published by: Institute of Mother and Child
In partnership with: Paradigm Publishing Services
Related subjects:
Medicine,
Clinical medicine,
Pediatrics and juvenile medicine,
Paediatric haematology and oncology,
Public health
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