Johannes Häberle

Prof. Johannes Häberle


Research Focus & Metrics

Academic Career Length

28Years (1999-Present)

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

Representative Publications

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1 January 2012 in Orphanet Journal of Rare Diseases
Verified
Journal Article
Open access
PDF file
JHJohannes Häberle
Johannes Häberle
NBNathalie Boddaert
Nathalie Boddaert
ABAlberto Burlina
Alberto Burlina
ACAnupam Chakrapani
Anupam Chakrapani
MDMarjorie Dixon
Marjorie Dixon
CDCarlo Dionisi-Vici
Carlo Dionisi-Vici
Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one mitochondrial ornithine/citrulline antiporter) with an estimated incidence of 1:8.000. Patients present with hyperammonemia either shortly after birth (~50%) or, later at any age, leading to death or to severe neurological handicap in many survivors. Despite the existence of effective therapy with alternative pathway therapy and liver transplantation, outcomes remain poor. This may be related to underrecognition and delayed diagnosis due to the nonspecific clinical presentation and insufficient awareness of health care professionals because of disease rarity. These guidelines aim at providing a trans-European consensus to: guide practitioners, set standards of care and help awareness campaigns. To achieve these goals, the guidelines were developed using a Delphi methodology, by having professionals on UCDs across seven European countries to gather all the existing evidence, score it according to the SIGN evidence level system and draw a series of statements supported by an associated level of evidence. The guidelines were revised by external specialist consultants, unrelated authorities in the field of UCDs and practicing pediatricians in training. Although the evidence degree did hardly ever exceed level C (evidence from non-analytical studies like case reports and series), it was sufficient to guide practice on both acute and chronic presentations, address diagnosis, management, monitoring, outcomes, and psychosocial and ethical issues. Also, it identified knowledge voids that must be filled by future research. We believe these guidelines will help to: harmonise practice, set common standards and spread good practices with a positive impact on the outcomes of UCD patients.

14 April 2019 in Journal of Inherited Metabolic Disease
Verified
Journal Article
Closed access
PDF file
JHJohannes Häberle
Johannes Häberle
ABAlberto Burlina
Alberto Burlina
ACAnupam Chakrapani
Anupam Chakrapani
MDMarjorie Dixon
Marjorie Dixon
DKDaniela Karall
Daniela Karall
CDCarlo Dionisi-Vici
Carlo Dionisi-Vici

8 October 2018 in Nature Medicine
Verified
Journal Article
Closed access
PDF file
LVLukas Villiger
Lukas Villiger
HGHiu Man Grisch-Chan
Hiu Man Grisch-Chan
HLHelen Lindsay
Helen Lindsay
FRFemke Ringnalda
Femke Ringnalda
CPChiara B. Pogliano
Chiara B. Pogliano
GSGerald Schwank
Gerald Schwank

1 September 2013 in Molecular Genetics and Metabolism
Verified
Journal Article
Closed access
MSMarshall L. Summar
Marshall L. Summar
SKStefan Kölker
Stefan Kölker
DFDebra Freedenberg
Debra Freedenberg
CMCynthia Le Mons
Cynthia Le Mons
JHJohannes Häberle
Johannes Häberle
BKBrian Kirmse
Brian Kirmse

20 May 2019 in Journal of Human Genetics
Verified
Journal Article
Closed access
PDF file
SMShirou Matsumoto
Shirou Matsumoto
JHJohannes Häberle
Johannes Häberle
JKJun-ichi Kido
Jun-ichi Kido
HMHiroshi Mitsubuchi
Hiroshi Mitsubuchi
FEFumio Endo
Fumio Endo
KNKimitoshi Nakamura
Kimitoshi Nakamura

15 April 2015 in Journal of Inherited Metabolic Disease
Verified
Journal Article
Closed access
PDF file
SKStefan Kölker
Stefan Kölker
ACAngeles Garcia Cazorla
Angeles Garcia Cazorla
VVVassili Valayannopoulos
Vassili Valayannopoulos
ALAllan M Lund
Allan M Lund
ABAlberto B. Burlina
Alberto B. Burlina
PBPeter Burgard
Peter Burgard