Detalhe da pesquisa
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.
J Inherit Metab Dis
; 45(5): 952-962, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35722880
2.
Development and feasibility of the use of an assessment tool measuring treatment efficacy in patients with trimethylaminuria: A mixed methods study.
J Inherit Metab Dis
; 42(2): 362-370, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30734325
3.
Liver neoplasms in methylmalonic aciduria: An emerging complication.
J Inherit Metab Dis
; 42(5): 793-802, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31260114
4.
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
J Inherit Metab Dis
; 40(3): 357-368, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28251416
5.
Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population.
PLoS Genet
; 6(12): e1001239, 2010 Dec 09.
Artigo
Inglês
| MEDLINE | ID: mdl-21170305
6.
Pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral dose of an engineered phenylalanine ammonia-lyase in patients with phenylketonuria.
Mol Genet Metab Rep
; 37: 101012, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38053938
7.
Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.
Nutrients
; 15(3)2023 Jan 19.
Artigo
Inglês
| MEDLINE | ID: mdl-36771238
8.
GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.
Orphanet J Rare Dis
; 16(1): 465, 2021 11 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34732213
9.
A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia.
Front Neurosci
; 15: 664525, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34220424
10.
Clinical utilization of dried blood spot nitisinone (NTBC) and succinylacetone (SA) concentrations in hereditary tyrosinaemia type 1 - A UK centre experience.
Ann Clin Biochem
; 57(6): 412-419, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32936663
11.
Improved Eating Behaviour and Nutrient Intake in Noncompliant Patients with Phenylketonuria after Reintroducing a Protein Substitute: Observations from a Multicentre Study.
Nutrients
; 11(9)2019 Aug 30.
Artigo
Inglês
| MEDLINE | ID: mdl-31480383
12.
Nutritional and Metabolic Characteristics of UK Adult Phenylketonuria Patients with Varying Dietary Adherence.
Nutrients
; 11(10)2019 Oct 14.
Artigo
Inglês
| MEDLINE | ID: mdl-31615158
13.
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.
Orphanet J Rare Dis
; 14(1): 285, 2019 12 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31801588
14.
Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome.
Mov Disord
; 28(3): 399-401, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23436702
15.
Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC.
JIMD Rep
; 40: 97-103, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29143197
16.
Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom.
PLoS One
; 13(2): e0191945, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29394260
17.
Creatine deficiency syndromes: diagnostic pearls and pitfalls.
Can J Neurol Sci
; 38(5): 765-7, 2011 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-21856584
18.
e-clinic: an electronic triage system for the management of type 2 Diabetes Mellitus.
Stud Health Technol Inform
; 107(Pt 1): 246-50, 2004.
Artigo
Inglês
| MEDLINE | ID: mdl-15360812
19.
Early-onset insulin-resistant diabetes in obese Caucasians has features of typical type 2 diabetes, but 3 decades earlier.
Diabetes Care
; 28(5): 1216-8, 2005 May.
Artigo
Inglês
| MEDLINE | ID: mdl-15855595
20.
Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency.
Ann Clin Biochem
; 47(Pt 3): 279-81, 2010 May.
Artigo
Inglês
| MEDLINE | ID: mdl-20406775