Detalhe da pesquisa
1.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis
; 46(3): 482-519, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36221165
2.
Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic.
Z Gastroenterol
; 61(4): 375-380, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37040780
3.
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
4.
Diagnosis and management of secondary causes of steatohepatitis.
J Hepatol
; 74(6): 1455-1471, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33577920
5.
Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control study.
J Inherit Metab Dis
; 43(5): 981-993, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32118306
6.
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
7.
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
Intern Med J
; 49(5): 578-591, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414226
8.
Hepatocellular carcinoma in Gaucher disease: an international case series.
J Inherit Metab Dis
; 41(5): 819-827, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29423829
9.
Low Incidence of Esophageal Lesions After Pulmonary Vein Isolation Using Contact-Force Sensing Catheter Without Esophageal Temperature Probe.
Int Heart J
; 58(6): 880-884, 2017 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29151478
10.
Reply to Letter to the Editor: "The added benefit of contrast-enhanced CT in the evaluation of incidental FDG-avid colon lesions".
Eur J Nucl Med Mol Imaging
; 47(10): 2245-2246, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32601804
11.
Understanding the natural history of Gaucher disease.
Am J Hematol
; 90 Suppl 1: S6-11, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26096746
12.
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Ann Clin Transl Neurol
; 11(4): 883-898, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263760
13.
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.
J Inherit Metab Dis
; 36(3): 543-53, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22976765
14.
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.
Br J Haematol
; 158(4): 528-38, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22640238
15.
Radiofrequency Pulmonary Vein Isolation without Esophageal Temperature Monitoring: Contact-Force Characteristics and Incidence of Esophageal Thermal Damage.
J Clin Med
; 11(23)2022 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498492
16.
Percutaneous transhepatic or endoscopic ultrasound-guided biliary drainage in malignant distal bile duct obstruction using a self-expanding metal stent: Study protocol for a prospective European multicenter trial (PUMa trial).
PLoS One
; 17(10): e0275029, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36302047
17.
Activation of integrins by urea in perfused rat liver.
J Biol Chem
; 285(38): 29348-56, 2010 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-20643649
18.
Whole body MRI in type I Gaucher patients: evaluation of skeletal involvement.
Blood Cells Mol Dis
; 46(1): 53-9, 2011 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21056931
19.
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.
Blood Cells Mol Dis
; 44(1): 41-7, 2010 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19804996
20.
A validated disease severity scoring system for adults with type 1 Gaucher disease.
Genet Med
; 12(1): 44-51, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20027115