Detalhe da pesquisa
1.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Genet Med
; 24(8): 1781-1788, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503103
2.
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.
Eur J Med Genet
; 66(3): 104696, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36639056
3.
Should children with cerebral palsy and normal imaging undergo testing for inherited metabolic disorders?
Dev Med Child Neurol
; 53(3): 226-32, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21291466
4.
Mechanisms of obesity in children and adults with phenylketonuria on contemporary treatment.
Clin Nutr ESPEN
; 46: 539-543, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34857247
5.
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
em Inglês
| MEDLINE | ID: mdl-31480383
6.
A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes.
Mitochondrion
; 47: 18-23, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31022467
7.
Nutritional and Metabolic Characteristics of UK Adult Phenylketonuria Patients with Varying Dietary Adherence.
Nutrients
; 11(10)2019 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31615158
8.
Growing skull fracture at birth: a rare presentation of Menkes disease.
Arch Dis Child
; 104(11): 1112-1113, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29853613