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Journals
Journal of Mother and Child
Volume 24 (2020): Issue 2 (June 2020)
Open Access
Journal of Mother and Child
Volume 24 (2020): Issue 2 (June 2020)
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Editorial
Open Access | Nov 10, 2020
Editorial
Stephanie Grunewald
Stephanie Grunewald
Review paper
Open Access | Oct 02, 2020
Advances in diagnosis and management of Pompe disease
James E. Davison
James E. Davison
Open Access | Nov 10, 2020
An expanding spectrum of complications in isolated methylmalonic aciduria
Patrick Forny
Patrick Forny
and
Stephanie Grunewald
Stephanie Grunewald
Open Access | Nov 10, 2020
Congenital disorders of glycosylation: A multi-genetic disease family with multiple subcellular locations
Jaak Jaeken
Jaak Jaeken
Open Access | Nov 10, 2020
Hormonal dysfunction in adult patients affected with inherited metabolic disorders
Karolina M. Stepien
Karolina M. Stepien
Open Access | Oct 02, 2020
Primary hyperammonaemia: Current diagnostic and therapeutic strategies
Johannes Häberle
Johannes Häberle
Open Access | Oct 02, 2020
When to measure plasma homocysteine and how to place it in context: The homocystinurias
Martina Huemer
Martina Huemer
Open Access | Oct 02, 2020
The switch in the diagnosis of mitochondrial diseases from the classical ‘function first’ to the NGS-based ‘genetics first’ diagnostic era
Wolfgang Sperl
Wolfgang Sperl
,
Saskia Wortmann
Saskia Wortmann
,
René G. Feichtinger
René G. Feichtinger
and
Johannes A. Mayr
Johannes A. Mayr
Open Access | Nov 10, 2020
Gene therapy for inherited metabolic diseases
Berna Seker Yilmaz
Berna Seker Yilmaz
,
Sonam Gurung
Sonam Gurung
,
Dany Perocheau
Dany Perocheau
,
John Counsell
John Counsell
and
Julien Baruteau
Julien Baruteau
Open Access | Oct 02, 2020
A holistic approach to the patients/Families with inborn errors of metabolism
Peter Burgard
Peter Burgard
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Volume 28 (2024)
Issue 1 (February 2024)
Volume 27 (2023)
Issue 1 (June 2023)
Volume 26 (2022)
Issue 1 (March 2022)
Volume 25 (2021)
Issue 4 (December 2021)
Issue 3 (September 2021)
Issue 2 (June 2021)
Issue 1 (March 2021)
Volume 24 (2020)
Issue 4 (December 2020)
Issue 3 (September 2020)
Issue 2 (June 2020)
Issue 1 (July 2020)
Volume 23 (2019)
Issue 4 (December 2019)
Issue 3 (September 2019)
Issue 2 (June 2019)
Issue 1 (March 2019)
Volume 22 (2018)
Issue 4 (December 2018)
Issue 3 (September 2018)
Issue 2 (June 2018)
Issue 1 (March 2018)
Volume 21 (2017)
Issue 4 (December 2017)
Issue 3 (September 2017)
Issue 2 (June 2017)
Issue 1 (March 2017)