Found: 18
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Recurrent brief depression in a female patient with Fabry disease.
- Published in:
- 2006
- By:
- Publication type:
- Letter
IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.
- Published in:
- Pediatric Nephrology, 2006, v. 21, n. 9, p. 1251, doi. 10.1007/s00467-006-0176-5
- By:
- Publication type:
- Article
Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease.
- Published in:
- Genetica, 2008, v. 134, n. 3, p. 377, doi. 10.1007/s10709-008-9245-y
- By:
- Publication type:
- Article
Non-immune hydrops fetalis was rare in Sweden during 1997-2015, but cases were associated with complications and poor prognosis.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The Cardiovascular Profile Score in Patients with Non-immune Hydrops Fetalis and Cardiac Anomalies — a Pilot Study.
- Published in:
- Reproductive Sciences, 2023, v. 30, n. 9, p. 2805, doi. 10.1007/s43032-023-01216-w
- By:
- Publication type:
- Article
A single center experience in 90 cases with nonimmune hydrops fetalis: diagnostic categories ‒ mostly aneuploidy and still often idiopathic.
- Published in:
- Journal of Perinatal Medicine, 2022, v. 50, n. 7, p. 985, doi. 10.1515/jpm-2022-0005
- By:
- Publication type:
- Article
Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 86, doi. 10.1186/1750-1172-7-86
- By:
- Publication type:
- Article
Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 269, doi. 10.1007/s10545-013-9649-4
- By:
- Publication type:
- Article
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.
- Published in:
- 2003
- By:
- Publication type:
- journal article
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.
- Published in:
- European Journal of Pediatrics, 2003, v. 162, n. 11, p. 767
- By:
- Publication type:
- Article
Cardiac manifestations of Anderson-Fabry disease in children and adolescents.
- Published in:
- Acta Paediatrica, 2008, v. 97, n. 4, p. 463, doi. 10.1111/j.1651-2227.2008.00700.x
- By:
- Publication type:
- Article
Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 412, doi. 10.1002/humu.9327
- By:
- Publication type:
- Article
Pattern of microstructural brain tissue alterations in Fabry disease.
- Published in:
- Journal of Neurology, 2006, v. 253, n. 6, p. 780, doi. 10.1007/s00415-006-0118-y
- By:
- Publication type:
- Article
Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ).
- Published in:
- 2012
- By:
- Publication type:
- journal article
Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ).
- Published in:
- Health & Quality of Life Outcomes, 2012, v. 10, n. 1, p. 116, doi. 10.1186/1477-7525-10-116
- By:
- Publication type:
- Article
Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1174
- By:
- Publication type:
- Article