Eva Morava

Dr. Eva Morava


Research Focus & Metrics

Academic Career Length

33Years (1994-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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1 January 2019 in Journal of Inherited Metabolic Disease
Verified
Journal Article
Open access
PDF file
RARuqaiah Altassan
Ruqaiah Altassan
RPRomain Péanne
Romain Péanne
JJJaak Jaeken
Jaak Jaeken
RBRita Barone
Rita Barone
MBMuad Bidet
Muad Bidet
EMEva Morava
Eva Morava
Phosphomannomutase 2 (PMM2‐CDG) is the most common congenital disorder of N‐glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2‐CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2‐CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence‐based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2‐CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2‐CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2‐CDG patients.

1 May 2013 in Neuroscience & Biobehavioral Reviews
Verified
Journal Article
Closed access
EMEva Morava
Eva Morava
TKTamás Kozicz
Tamás Kozicz

15 May 2014 in Journal of Inherited Metabolic Disease
Verified
Journal Article
Closed access
PDF file
KSKyle Scott
Kyle Scott
TGTherese Gadomski
Therese Gadomski
TKTamas Kozicz
Tamas Kozicz
EMEva Morava
Eva Morava

19 September 2019 in Genetics in Medicine
Verified
Journal Article
Closed access
JVJan Verheijen
Jan Verheijen
STShawn Tahata
Shawn Tahata
TKTamas Kozicz
Tamas Kozicz
PWPEter Witters
PEter Witters
EMEva Morava
Eva Morava

1 August 2014 in Molecular Genetics and Metabolism
Verified
Journal Article
Closed access
EMEva Morava
Eva Morava

13 April 2018 in Journal of Inherited Metabolic Disease
Verified
Journal Article
Closed access
PDF file
CFCarlos R. Ferreira
Carlos R. Ferreira
RARuqaia Altassan
Ruqaia Altassan
DMDorinda Marques‐Da‐Silva
Dorinda Marques‐Da‐Silva
RFRita Francisco
Rita Francisco
JJJaak Jaeken
Jaak Jaeken
EMEva Morava
Eva Morava