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1.
Risk factors for impaired health-related quality of life in a cohort of pediatric patients with inborn metabolic diseases.
Eur J Pediatr
; 181(3): 1063-1070, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-34718865
2.
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Brain
; 138(Pt 12): 3503-19, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26510951
3.
Cultural aspects in the management of inborn errors of metabolism.
J Inherit Metab Dis
; 35(6): 1147-52, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22358739
4.
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
J Inherit Metab Dis
; 35(1): 133-40, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-21667091
5.
Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.
Mol Genet Metab
; 96(4): 273-5, 2009 Apr.
Article
in English
| MEDLINE | ID: mdl-19188083
6.
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
Orphanet J Rare Dis
; 9: 107, 2014 Aug 01.
Article
in English
| MEDLINE | ID: mdl-25081276
7.
Oral beta-hydroxybutyrate supplementation in two patients with hyperinsulinemic hypoglycemia: monitoring of beta-hydroxybutyrate levels in blood and cerebrospinal fluid, and in the brain by in vivo magnetic resonance spectroscopy.
Pediatr Res
; 52(2): 301-6, 2002 Aug.
Article
in English
| MEDLINE | ID: mdl-12149510
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