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Journal of Mother and Child
Volume 24 (2020): Issue 2 (June 2020)
Volume 24 (2020): Issue 2 (Jun 2020)
Journal of Mother and Child
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10 articles
Open Access
|
Nov 2020
Abstract
Editorial
Stephanie Grunewald
Open Access
|
Oct 2020
Abstract
Advances in diagnosis and management of Pompe disease
James E. Davison
Open Access
|
Nov 2020
Abstract
An expanding spectrum of complications in isolated methylmalonic aciduria
Patrick Forny
and
Stephanie Grunewald
Open Access
|
Nov 2020
Abstract
Congenital disorders of glycosylation: A multi-genetic disease family with multiple subcellular locations
Jaak Jaeken
Open Access
|
Nov 2020
Abstract
Hormonal dysfunction in adult patients affected with inherited metabolic disorders
Karolina M. Stepien
Open Access
|
Oct 2020
Abstract
Primary hyperammonaemia: Current diagnostic and therapeutic strategies
Johannes Häberle
Open Access
|
Oct 2020
Abstract
When to measure plasma homocysteine and how to place it in context: The homocystinurias
Martina Huemer
Open Access
|
Oct 2020
Abstract
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
Abstract
Gene therapy for inherited metabolic diseases
Berna Seker Yilmaz
,
Sonam Gurung
,
Dany Perocheau
,
John Counsell
and
Julien Baruteau
Open Access
|
Oct 2020
Abstract
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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