Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

Long-term outcome of patients with urea cycle disorders and the question of neonatal screening

European Journal of Pediatrics ◽

10.1007/s00431-003-1347-z ◽

2003 ◽

Vol 162 (0) ◽

pp. S29-S33 ◽

Cited By ~ 106

Author(s):

Claude Bachmann

Keyword(s):

Neonatal Screening ◽

Urea Cycle ◽

Urea Cycle Disorders ◽

Term Outcome ◽

Long Term Outcome ◽

Long-term outcome and intervention of urea cycle disorders in Japan

10.1007/s10545-011-9427-0 ◽

2011 ◽

Vol 35 (5) ◽

pp. 777-785 ◽

Cited By ~ 55

Author(s):

Jun Kido ◽

Kimitoshi Nakamura ◽

Hiroshi Mitsubuchi ◽

Toshihiro Ohura ◽

Masaki Takayanagi ◽

...

Keyword(s):

Urea Cycle ◽

Urea Cycle Disorders ◽

Term Outcome ◽

Long Term Outcome ◽

Long‐term outcome of urea cycle disorders: report from a nationwide study in Japan

10.1002/jimd.12384 ◽

2021 ◽

Author(s):

Jun Kido ◽

Shirou Matsumoto ◽

Johannes Häberle ◽

Yoko Nakajima ◽

Yoichi Wada ◽

...

Keyword(s):

Urea Cycle ◽

Urea Cycle Disorders ◽

Term Outcome ◽

Long Term Outcome ◽

Nationwide Study ◽

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

10.1007/s10545-017-0117-4 ◽

2018 ◽

Vol 41 (4) ◽

pp. 743-744

Author(s):

Roland Posset ◽

◽

Angeles Garcia-Cazorla ◽

Vassili Valayannopoulos ◽

Elisa Leão Teles ◽

...

Keyword(s):

Neurological Outcome ◽

Urea Cycle ◽

Disease Onset ◽

Urea Cycle Disorders ◽

Ammonium Level ◽

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

10.1007/s10545-016-9938-9 ◽

2016 ◽

Vol 39 (5) ◽

pp. 661-672 ◽

Cited By ~ 29

Author(s):

Roland Posset ◽

◽

Angeles Garcia-Cazorla ◽

Vassili Valayannopoulos ◽

Elisa Leão Teles ◽

...

Keyword(s):

Neurological Outcome ◽

Urea Cycle ◽

Disease Onset ◽

Urea Cycle Disorders ◽

Ammonium Level ◽

Mutation analysis of urea cycle disorders

Journal of Pediatric Biochemistry ◽

10.1055/s-0036-1586459 ◽

2016 ◽

Vol 04 (01) ◽

pp. 033-043

Author(s):

Johannes Häberle ◽

Véronique Rüfenacht

Keyword(s):

Mutation Analysis ◽

Urea Cycle ◽

Urea Cycle Disorders ◽

The Effect of Histological Chorioamnionitis on the Short-Term Outcome of Preterm Infants Weighing ≤1,500 Grams: A Single-Center Study

American Journal of Perinatology ◽

10.1055/s-0036-1592396 ◽

2016 ◽

Vol 33 (S 01) ◽

Author(s):

M. Rinaldi ◽

C. Melillo ◽

G. Maffei ◽

A. Savastio ◽

M. Matteo ◽

...

Keyword(s):

Preterm Infants ◽

Single Center ◽

Short Term ◽

Term Outcome ◽

Short Term Outcome ◽

Single Center Study ◽

Center Study

Impaired baroreflex sensitivity predicts poor short-term outcome in intracerebral haemorrhage – preliminary results

Aktuelle Neurologie ◽

10.1055/s-2007-988079 ◽

2007 ◽

Vol 34 (S 2) ◽

Author(s):

M Sykora ◽

J Diedler ◽

T Steiner

Keyword(s):

Intracerebral Haemorrhage ◽

Baroreflex Sensitivity ◽

Short Term ◽

Term Outcome ◽

Preliminary Results ◽

Short Term Outcome

Mutation update and short-term outcome after treatment with active vitamin D3in Chinese patients with pseudo-vitamin D-deficiency rickets

Bone Abstracts ◽

10.1530/boneabs.5.p481 ◽

2016 ◽

Author(s):

Yue Chi ◽

Jing Sun ◽

Li Pang ◽

Ruizhi Jiajue ◽

Yan Jiang ◽

...

Keyword(s):

Vitamin D ◽

Vitamin D Deficiency ◽

Chinese Patients ◽

Active Vitamin ◽

Short Term ◽

Term Outcome ◽

Short Term Outcome ◽

Deficiency Rickets

Human medicines European public assessment report (EPAR): Ravicti, glycerol phenylbutyrate, Urea Cycle Disorders, Inborn, Date of authorisation: 26/11/2015, Revision: 10, Status: Authorised

Case Medical Research ◽

10.31525/cmr-41abf0 ◽

2019 ◽

Author(s):

Keyword(s):

Urea Cycle ◽

Urea Cycle Disorders ◽

Assessment Report ◽

European Public ◽

European Public Assessment Report ◽