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Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy

Journal of inherited metabolic disease, 2014-03, Vol.37 (2), p.269-276

2014

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Onset and progression of the Anderson–Fabry disease related cardiomyopathy

International journal of cardiology, 2008-11, Vol.130 (3), p.367-373

2008

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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

Orphanet journal of rare diseases, 2012-11, Vol.7 (1), p.86-86

2012

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Clinical manifestations of Fabry disease in children : Data from the Fabry Outcome Survey

Acta pædiatrica (Oslo), 2006, Vol.95 (1), p.86-92

2006

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Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)

Health and quality of life outcomes, 2012-09, Vol.10 (1), p.116-116

2012

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Cardiac manifestations of Anderson–Fabry disease in heterozygous females

Journal of the American College of Cardiology, 2002-11, Vol.40 (9), p.1668-1674

2002

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Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia

Molecular genetics & genomic medicine, 2020-05, Vol.8 (5), p.e1174-n/a

2020

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The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents

European journal of pediatrics, 2003-11, Vol.162 (11), p.767-772

2003

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Results of the hypothermia registry of the University Hospital Dresden from 2010-2017. Application of hypothermia therapy in newborns in Germany

Zeitschrift fur Geburtshilfe und Neonatologie, 2020-12, Vol.224 (6), p.367

2020

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Enzyme Replacement in Fabry Disease: Pharmacokinetics and Pharmacodynamics of Agalsidase Alfa in Children and Adolescents

Journal of clinical pharmacology, 2007-10, Vol.47 (10), p.1222-1230

2007

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Weaning Premature Infants from Nasal Continuous Positive Airway Pressure - Current Practice and Scientific Evidence

Klinische Padiatrie, 2017-07, Vol.229 (4), p.229-233

2017

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Non‐immune hydrops fetalis was rare in Sweden during 1997‐2015, but cases were associated with complications and poor prognosis

Acta Paediatrica, 2020-12, Vol.109 (12), p.2570-2577

2020

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The Cardiovascular Profile Score in Patients with Non-immune Hydrops Fetalis and Cardiac Anomalies — a Pilot Study

Reproductive sciences (Thousand Oaks, Calif.), 2023-09, Vol.30 (9), p.2805-2812

2023

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Ergebnisse des Hypothermienetzwerks des Universitätsklinikums Dresden von 2010–2017. Entwicklung der Hypothermietherapie bei Neugeborenen in Deutschland

Zeitschrift für Geburtshilfe und Neonatologie, 2020-12, Vol.224 (6), p.367-373

2020

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A single center experience in 90 cases with nonimmune hydrops fetalis: diagnostic categories ‒ mostly aneuploidy and still often idiopathic

Journal of perinatal medicine, 2022-09, Vol.50 (7), p.985-992

2022

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A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease

Genetics in medicine, 2009-06, Vol.11 (6), p.441-449

2009

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Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653–5655delTAT, causing harlequin ichthyosis

Gene, 2013-12, Vol.531 (2), p.510-513

2013

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Cardiac manifestations of Anderson-Fabry disease in children and adolescents

Acta Paediatrica, 2008-04, Vol.97 (4), p.463-469

2008

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Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease

Pediatrics (Evanston), 2006-09, Vol.118 (3), p.924-932

2006

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Disease manifestations and X inactivation in heterozygous females with Fabry disease

Acta pædiatrica (Oslo), 2006-04, Vol.95 (451), p.30-38

2006

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Mucopolysaccharidosis Type VII (Sly disease) survivors

Molecular genetics and metabolism, 2013-02, Vol.108 (2), p.S20-S20

2013

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Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

Human mutation, 2005-04, Vol.25 (4), p.412-412

2005

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Paraoxonase (PON1) Gene Polymorphisms in Fabry Disease: Correlation with Renal Disease

Nephron, 2010-11, Vol.116 (4), p.c289-c293

2010

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Pattern of microstructural brain tissue alterations in Fabry disease : A diffusion-tensor imaging study

Journal of neurology, 2006-06, Vol.253 (6), p.780-787

2006

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An association study of inflammatory cytokine gene polymorphisms in Fabry disease

European cytokine network (Montrouge), 2006-12, Vol.17 (4), p.271-275

2006

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Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy

Onset and progression of the Anderson–Fabry disease related cardiomyopathy

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

Clinical manifestations of Fabry disease in children : Data from the Fabry Outcome Survey

Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)

Cardiac manifestations of Anderson–Fabry disease in heterozygous females

Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents

Results of the hypothermia registry of the University Hospital Dresden from 2010-2017. Application of hypothermia therapy in newborns in Germany

Enzyme Replacement in Fabry Disease: Pharmacokinetics and Pharmacodynamics of Agalsidase Alfa in Children and Adolescents

Weaning Premature Infants from Nasal Continuous Positive Airway Pressure - Current Practice and Scientific Evidence

Non‐immune hydrops fetalis was rare in Sweden during 1997‐2015, but cases were associated with complications and poor prognosis

The Cardiovascular Profile Score in Patients with Non-immune Hydrops Fetalis and Cardiac Anomalies — a Pilot Study

Ergebnisse des Hypothermienetzwerks des Universitätsklinikums Dresden von 2010–2017. Entwicklung der Hypothermietherapie bei Neugeborenen in Deutschland

A single center experience in 90 cases with nonimmune hydrops fetalis: diagnostic categories ‒ mostly aneuploidy and still often idiopathic

A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease

Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653–5655delTAT, causing harlequin ichthyosis

Cardiac manifestations of Anderson-Fabry disease in children and adolescents

Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease

Disease manifestations and X inactivation in heterozygous females with Fabry disease

Mucopolysaccharidosis Type VII (Sly disease) survivors

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

Paraoxonase (PON1) Gene Polymorphisms in Fabry Disease: Correlation with Renal Disease

Pattern of microstructural brain tissue alterations in Fabry disease : A diffusion-tensor imaging study

An association study of inflammatory cytokine gene polymorphisms in Fabry disease

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