Prof. Sufin Yap
Editor-in-Chief
Dr Ana Moráis López
Editorial Board Member
Latest updates
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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
These guidelines aim to provide a trans-European consensus to guide practitioners, set standards of care and to help to raise awareness of methylmalonic and propionic acidemia.
Baumgartner et al. Orphanet Journal of Rare Diseases 2014;9:130
Normal neurological development during infancy despite massive hyperammonemia in early treated NAGS deficiency
A girl born at term was admitted to the neonatal intensive care unit because of mild respiratory distress after a complicated delivery. She recovered, but was readmitted at 58 h of life with mild respiratory distress and increased muscle tone.
Reigstad et al. JIMD Rep. 2017;37:45-47
Latest updates
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
These guidelines aim to provide a trans-European consensus to guide practitioners, set standards of care and to help to raise awareness of methylmalonic and propionic acidemia.
Baumgartner et al. Orphanet Journal of Rare Diseases 2014;9:130
Normal neurological development during infancy despite massive hyperammonemia in early treated NAGS deficiency
A girl born at term was admitted to the neonatal intensive care unit because of mild respiratory distress after a complicated delivery. She recovered, but was readmitted at 58 h of life with mild respiratory distress and increased muscle tone.
Reigstad et al. JIMD Rep. 2017;37:45-47