ESTHER database
Classes
Author
Block
Chemical
Disease
Enzyme
Family
Genes Locus
Inhibitor
Interact Gene Locus
Mutation
Paper
Reactivator
Species
Structure
Substrate
Type inhibitor
Type reactivator
Type substrate
Families
Overall table
All figures of families
Tools
HMMER
BLAST
Basics on AChE
Kinetics notes
Gene Structures
Molecular forms
AChE Family
Human ACHE
ESTHER Definition
Definition
Definition biblio
What is up?
Meeting
Supplementary data
Latest Modifications
Bibliography (all years)
Acknowledgements and disclaimer
Home
Author
Brandau O
Brandau O
References (1)
1. HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients - Kovacs-Nagy_2018_Neuropediatrics_49_373
Title :
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients -
Kovacs-Nagy_2018_Neuropediatrics_49_373
Author(s) :
Kovacs-Nagy R
,
Morin G
,
Nouri MA
,
Brandau O
,
Saadi NW
,
van den Broek F
,
Prokisch H
,
Mayr JA
,
Wortmann SB
Ref :
Neuropediatrics ,
49
:373 , 2018
Abstract :
View Abstract
PubMedSearch :
Kovacs-Nagy_2018_Neuropediatrics_49_373
PubMedID
:
30114719