Detalhe da pesquisa
1.
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
PLoS Genet
; 18(4): e1010192, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35482848
2.
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria.
Mol Genet Metab
; 141(1): 108114, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38142628
3.
Double-Stranded RNA Induces Mortality in an MDA5-Mediated Type I Interferonopathy Model.
J Immunol
; 209(11): 2093-2103, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36426976
4.
Two years of pegvaliase in Germany: Experiences and best practice recommendations.
Mol Genet Metab
; 139(1): 107564, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086569
5.
Improved Reversion of Calcifications in Porcine Aortic Heart Valves Using Elastin-Targeted Nanoparticles.
Int J Mol Sci
; 24(22)2023 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003660
6.
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Hum Mutat
; 43(12): 1673-1705, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36150100
7.
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
Genet Med
; 24(12): 2444-2452, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36107167
8.
An Unusual Case of Transient Cardiac Calcification Identified on Antenatal Echocardiography: A Generalized Arterial Calcification of Infancy (GACI) Like Presentation.
Calcif Tissue Int
; 111(6): 646-652, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36220940
9.
Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ.
Pediatr Res
; 91(4): 874-878, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34497359
10.
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
J Inherit Metab Dis
; 45(6): 1070-1081, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054426
11.
Hereditary Disorders of Cardiovascular Calcification.
Arterioscler Thromb Vasc Biol
; 41(1): 35-47, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33176451
12.
CRLF1 and CLCF1 in Development, Health and Disease.
Int J Mol Sci
; 23(2)2022 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35055176
13.
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
Lancet
; 396(10252): 684-692, 2020 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891212
14.
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Genet Med
; 23(2): 396-407, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33005041
15.
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.
Genet Med
; 23(12): 2443-2447, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341520
16.
BCP crystals promote chondrocyte hypertrophic differentiation in OA cartilage by sequestering Wnt3a.
Ann Rheum Dis
; 79(7): 975-984, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32371389
17.
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
Clin Genet
; 97(1): 209-221, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31497877
18.
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
Am J Med Genet A
; 182(5): 994-1007, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32091183
19.
Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain.
Muscle Nerve
; 61(2): 173-181, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31749205
20.
Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study.
Ann Nutr Metab
; 76(4): 251-258, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32998147