List of works - Dominique P Germain

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.

scientific article published on 26 January 2013

A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant

scientific article published on 01 January 2001

Adult patients with Fabry disease: what does the cardiologist need to know?

scientific article published on 11 March 2015

Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry

scientific article

Arterial remodeling and stiffness in patients with pseudoxanthoma elasticum.

scientific article published on 20 March 2003

Arterial remodelling in Fabry disease

scientific article published on 01 January 2002

Basilar Artery Changes in Fabry Disease

scientific article published on 26 January 2017

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry

scientific article published in November 2008

Clinical and genetic features of vascular Ehlers-Danlos syndrome.

scientific article

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.

scientific article published on 2 April 2015

Clinical utility gene card for: Fabry disease - update 2016.

scientific article published on 22 March 2017

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

scientific article published on 28 June 2014

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

scientific article published on 06 June 2019

Coronary CT angiography for chest pain in pseudoxanthoma elasticum and cardiac intervention management

scientific article published on 19 February 2015

Current state of the management of LSDs

scientific article published on 01 January 2009

Cystatin C as a marker of early changes of renal function in Fabry nephropathy

scientific article published on 01 July 2007

Determinants of white matter hyperintensity burden in patients with Fabry disease

scientific article published on 20 April 2016

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension st

scientific article published on 06 February 2019

Ehlers-Danlos syndromes

scientific article published on 9 October 2017

Eighth International Symposium on Lysosomal Storage Diseases.

scientific article published in January 2009

End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry

scientific article

Endothelial markers and homocysteine in patients with classic Fabry disease.

scientific article

Enzymatic diagnosis of Fabry disease using a fluorometric assay on dried blood spots: An alternative methodology.

scientific article published on 28 October 2015

Enzyme replacement therapy of lysosomal storage diseases

scientific article published on December 2010

Exhaustive Screening of the Acid β-Glucosidase Gene, by Fluorescence-Assisted Mismatch Analysis Using Universal Primers: Mutation Profile and Genotype/Phenotype Correlations in Gaucher Disease ⬇️

scientific article published on August 1, 1998

Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT).

scientific article

Fabry disease

Fabry disease revisited: Management and treatment recommendations for adult patients

scientific article published on 28 February 2018

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

scientific article

Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients.

scientific article

Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.

scientific article published on 8 March 2007

Fabry disease: enzymatic screening using dried blood spots on filter paper

scientific article published on December 2010

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

scientific article published on September 2006

Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

scientific article published in April 1999

Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations

scientific article published on January 2002

Familial occurrence and heritable connective tissue disorders in cervical artery dissection

scientific article published on 29 October 2014

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

scientific article

Gaucher disease: clinical, genetic and therapeutic aspects

scientific article

Gaucher's disease: a paradigm for interventional genetics.

scientific article

Génétique des mucopolysaccharidoses

scientific article published on 01 June 2014

Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing.

scientific article

Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum

scientific article published on 01 January 2001

Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry

scientific article

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

scientific article published on 27 July 2017

Liquid chromatography on porous graphitic carbon with atmospheric pressure photoionization mass spectrometry and tandem mass spectrometry for the analysis of glycosphingolipids.

scientific article

Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry disease

scientific article published on 04 March 2011

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

scientific article

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients

scientific article

Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase

scientific article published on 01 November 2001

Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum

scientific article published on 19 January 2017

Natural history of the respiratory involvement in Anderson-Fabry disease.

scientific article published on 9 July 2007

Neurologic manifestations of inherited disorders of connective tissue.

scientific article published on January 2014

Optimisation of the separation of four major neutral glycosphingolipids: application to a rapid and simple detection of urinary globotriaosylceramide in Fabry disease.

scientific article

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

scientific article

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment

scientific article published on 28 March 2016

Pathological case of the month. Pseudoxanthoma elasticum

scientific article published on 01 January 1997

Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients.

scientific article

Pharmacological chaperons: a novel therapeutic approach for genetic diseases

scientific article

Phenotype variations in Gaucher disease

scientific article published on 01 March 2006

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.

scientific article

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk

scientific article published in January 2000

Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry

scientific article

Pseudoxanthoma elasticum

scientific article

Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene.

scientific article published in July 2001

Raynaud's phenomenon associated with Fabry disease

scientific article published on 16 December 2014

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

scientific article

Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation

scientific article published on 29 July 2011

Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study

scientific article published on 9 November 2010

Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme

scientific article published on 01 May 2008

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

scientific article published on 20 March 2015

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies

scientific article

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

scientific article published on 29 November 2017

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

scientific article published on 23 July 2011

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

scientific article

The vascular Ehlers-Danlos syndrome

scientific article published on 01 April 2006

Therapeutic objectives in Gaucher disease

scientific article published in October 2007

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

scientific article

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

scientific article

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.

scientific article published on 19 August 2014

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup

scientific article published on 11 March 2020

Vascular Ehlers-Danlos syndrome.

scientific article published on January 2004

Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients

scientific article published on 21 April 2014

Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern

scientific article published on 14 September 2015