Detalhe da pesquisa
1.
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.
J Inherit Metab Dis
; 2024 Mar 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38433424
2.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32668217
3.
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Am J Hum Genet
; 100(2): 257-266, 2017 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28132689
4.
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Genet Med
; 21(3): 580-590, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29997390
5.
Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.
Eur J Pediatr
; 175(2): 261-72, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26350228
6.
Management of adult patients with phenylketonuria: survey results from 24 countries.
Eur J Pediatr
; 174(1): 119-27, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25480112
7.
Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation.
Metabolites
; 11(10)2021 Oct 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34677395
8.
1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
Orphanet J Rare Dis
; 16(1): 441, 2021 10 20.
Artigo
Inglês
| MEDLINE | ID: mdl-34670613
9.
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Hum Mutat
; 31(3): 279-83, 2010 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-20020533
10.
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Hum Mutat
; 31(4): 380-90, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20052767
11.
Management of phenylketonuria in Europe: survey results from 19 countries.
Mol Genet Metab
; 99(2): 109-15, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19800826
12.
Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment.
J Inherit Metab Dis
; 33 Suppl 3: S163-9, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20217238
13.
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.
Mol Genet Metab
; 96(4): 158-63, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19208488
14.
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.
J Pediatr
; 154(5): 700-7, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19261295
15.
Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.
Lancet
; 370(9586): 504-10, 2007 Aug 11.
Artigo
Inglês
| MEDLINE | ID: mdl-17693179
16.
Successful intrauterine treatment of a patient with cobalamin C defect.
Mol Genet Metab Rep
; 6: 55-9, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-27014578
17.
The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin.
JIMD Rep
; 23: 35-43, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25822821
18.
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
Hum Mutat
; 22(1): 24-34, 2003 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-12815590
19.
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany.
Orphanet J Rare Dis
; 6: 44, 2011 Jun 20.
Artigo
Inglês
| MEDLINE | ID: mdl-21689452
20.
Challenges and pitfalls in the management of phenylketonuria.
Pediatrics
; 126(2): 333-41, 2010 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-20624808