Suchergebnisse - "Jameson, Elisabeth"

PubPharm (40)

1

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria : A comparison between two genetic disorders affecting the same metabolic pathway

enthalten in: Journal of inherited metabolic disease | 2022

von van Vliet, K. | van Ginkel, W. | Jahja, R. | +32

2

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria : A comparison between two genetic disorders affecting the same metabolic pathway

enthalten in: Journal of Inherited Metabolic Disease | 2022

von Vliet, K. | Ginkel, W. | Jahja, R. | +32

3

Characterising a homozygous two-exon deletion in UQCRH : comparing human and mouse phenotypes

enthalten in: EMBO molecular medicine | 2021

von Vidali, S. | Gerlini, R. | Thompson, K. | +41

4

Characterising a homozygous two‐exon deletion in UQCRH : comparing human and mouse phenotypes

enthalten in: EMBO Molecular Medicine | 2021

von Vidali, S. | Gerlini, R. | Thompson, K. | +41

5

Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK

enthalten in: Nutrients | 2020

von Pinto, A. | Ashmore, C. | Batzios, S. | +19

6

Dietary interventions for phenylketonuria

enthalten in: The Cochrane database of systematic reviews | 2020

von Jameson, E. | Remmington, T.

UpdateOf: Cochrane Database Syst Rev. 2010 Jan 20;(1):CD001304. - PMID 20091517

7

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

enthalten in: Orphanet journal of rare diseases | 2019

von van Vliet, K. | van Ginkel, W. | Jahja, R. | +19

8

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

enthalten in: Orphanet journal of rare diseases | 2019

von van Vliet, K. | van Ginkel, W. | Jahja, R. | +19

9

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease

enthalten in: Human molecular genetics | 2019

von Oláhová, M. | Ceccatelli Berti, C. | Collier, J. | +10

10

Enzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type I

enthalten in: The Cochrane database of systematic reviews | 2019

von Jameson, E. | Jones, S. | Remmington, T.

UpdateOf: Cochrane Database Syst Rev. 2016 Apr 01;4:CD009354. - PMID 27033167