Works by Germain, P
Results: 107
Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.
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- 2000
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- Publication type:
- journal article
Site-Selectively Coated, Densely-Packed Microprojection Array Patches for Targeted Delivery of Vaccines to Skin.
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- Advanced Functional Materials, 2011, v. 21, n. 3, p. 464, doi. 10.1002/adfm.201000966
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- Article
A chimeric dengue virus vaccine candidate delivered by high density microarray patches protects against infection in mice.
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- NPJ Vaccines, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41541-021-00328-1
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- Article
Impaired Antigen Presentation and Effectiveness of Combined Active/Passive Immunotherapy for Epithelial Tumors.
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- JNCI: Journal of the National Cancer Institute, 2004, v. 96, n. 21, p. 1611, doi. 10.1093/jnci/djh301
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- Article
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.
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- Biomolecules (2218-273X), 2021, v. 11, n. 7, p. 951, doi. 10.3390/biom11070951
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- Article
FC-48 Reliability of the Canine Atopic Dermatitis Extent and Severity Scoring Index.
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- 2004
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- Abstract
P-4 Canine recurrent pyoderma: a multicenter prospective study.
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- 2004
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- Publication type:
- Abstract
Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease.
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- Biomedicines, 2024, v. 12, n. 11, p. 2578, doi. 10.3390/biomedicines12112578
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- Article
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1666
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- Article
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 4, p. 492, doi. 10.1002/mgg3.389
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- Article
Late onset stroke and myocardial infarction in Williams syndrome.
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- 2006
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- Publication type:
- Letter
Comparison between abnormalities in segmental endocardial motion and abnormalities in segmental wall thickening after anterior myocardial infarction.
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- European Heart Journal, 1996, v. 17, n. 9, p. 1350, doi. 10.1093/oxfordjournals.eurheartj.a015069
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- Article
Inter-study variability in left ventricular mass measurement Comparison between M-mode echography and MRI.
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- European Heart Journal, 1992, v. 13, n. 8, p. 1011, doi. 10.1093/oxfordjournals.eurheartj.a060307
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- Article
P768 Increased carotid artery stiffness in coronary artery disease assessed by speckle-tracking and its good association with aortic stiffness and endothelial dysfunction.
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- Cardiovascular Research, 2014, v. 103, n. suppl_1, p. S141, doi. 10.1093/cvr/cvu098.186
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- Article
P397 What are the specific features of Fabry cardiomyopathy?
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- Cardiovascular Research, 2014, v. 103, n. suppl_1, p. S73, doi. 10.1093/cvr/cvu091.79
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- Article
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03373-w
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- Article
Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry disease.
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- Journal of Mass Spectrometry, 2006, v. 41, n. 1, p. 50, doi. 10.1002/jms.945
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- Article
Identification of a novel de novo mutation (G373D) in the α-galactosidase A gene ( GLA) in a patient affected with Fabry disease.
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- Human Mutation, 2001, v. 17, n. 4, p. 353, doi. 10.1002/humu.41
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- 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.
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- Human Mutation, 2001, v. 17, n. 1, p. 74, doi. 10.1002/1098-1004(2001)17:1<74::AID-HUMU14>3.0.CO;2-F
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- Publication type:
- Article
Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of pseudoxanthoma elasticum patients: Possible sequence correction?
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- Human Mutation, 2000, v. 16, n. 5, p. 449, doi. 10.1002/1098-1004(200011)16:5<449::AID-HUMU24>3.0.CO;2-O
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- Article
Relation between stabilization and rigidification of the three-dimensional structure of an enzyme.
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- Biotechnology & Bioengineering, 1989, v. 33, n. 5, p. 563, doi. 10.1002/bit.260330508
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- Article
Thermal stabilization of a chemically oriented modified pullulanase.
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- Biotechnology & Bioengineering, 1988, v. 32, n. 2, p. 249, doi. 10.1002/bit.260320217
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- Publication type:
- Article
Diltiazem slow-release and left ventricular hypertrophy: a volumetric approach of left ventricular mass using magnetic resonance imaging.
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- Journal of Human Hypertension, 1997, v. 11, n. 6, p. 379, doi. 10.1038/sj.jhh.1000455
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- Publication type:
- Article
The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.
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- Genes, 2022, v. 13, n. 9, p. 1619, doi. 10.3390/genes13091619
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- Article
Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy.
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- Annals of Internal Medicine, 2003, v. 138, n. 4, p. 338, doi. 10.7326/0003-4819-138-4-200302180-00014
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- Publication type:
- Article
Teaching and assessment of Professional attitudes in UK dental schools – Commentary.
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- European Journal of Dental Education, 2010, v. 14, n. 3, p. 133, doi. 10.1111/j.1600-0579.2009.00601.x
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- Article
Les chaperons pharmacologiques Une nouvelle approche thérapeutique des maladies génétiques.
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- Médecine Sciences, 2013, v. 29, n. 6/7, p. 579, doi. 10.1051/medsci/2013296009
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- Article
Myocardial infarction in a patient with normal coronary arteries and hereditary haemorrhagic telangiectasia.
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- QJM: An International Journal of Medicine, 2006, v. 99, n. 3, p. 195, doi. 10.1093/qjmed/hcl017
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- Article
Safety, tolerability, and immunogenicity of influenza vaccination with a high-density microarray patch: Results from a randomized, controlled phase I clinical trial.
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- 2020
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- Publication type:
- journal article
Cardiomyopathy and kidney function in agalsidase beta‐treated female Fabry patients: a pre‐treatment vs. post‐treatment analysis.
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- ESC Heart Failure, 2020, v. 7, n. 3, p. 825, doi. 10.1002/ehf2.12647
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- Article
Evaluation of plasma canine C‐reactive protein concentrations in dogs with otitis media, healthy dogs and dogs with chronic otitis externa.
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- Veterinary Dermatology, 2024, v. 35, n. 3, p. 337, doi. 10.1111/vde.13241
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- Article
Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1395287
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- Article
Fabry disease and COVID-19: international expert recommendations for management based on real-world experience.
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- Clinical Kidney Journal, 2020, v. 13, n. 6, p. 913, doi. 10.1093/ckj/sfaa227
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- Article
Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients.
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- Ophthalmic Genetics, 2015, v. 36, n. 4, p. 327, doi. 10.3109/13816810.2014.886268
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- Article
Thromboxane A<sub>2</sub> modulates cisplatin-induced apoptosis through a Siva1-dependent mechanism.
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- Cell Death & Differentiation, 2012, v. 19, n. 8, p. 1347, doi. 10.1038/cdd.2012.11
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- Article
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.
- Published in:
- 2015
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- Publication type:
- journal article
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two Phase 2 clinical studies.
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- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 51
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- Article
SKELETAL MANIFESTATIONS OF FABRY DISEASE.
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- Current Medical Literature: Lysosomal Storage Disease, 2005, v. 5, n. 1, p. 1
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- Publication type:
- Article
Microprojection arrays applied to skin generate mechanical stress, induce an inflammatory transcriptome and cell death, and improve vaccine-induced immune responses.
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- NPJ Vaccines, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41541-019-0134-4
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- Publication type:
- Article
Identification of 137Cs- and 241Am-binding sites in the oyster crassostrea gigas.
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- IUBMB Life, 1996, v. 39, n. 1, p. 137, doi. 10.1080/15216549600201141
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- Article
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
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- Clinical Genetics, 2022, v. 101, n. 4, p. 390, doi. 10.1111/cge.14102
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- Publication type:
- Article
Featured Cover.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 4, p. 1, doi. 10.1111/cge.14091
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- Publication type:
- Article
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.
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- Clinical Genetics, 2019, v. 96, n. 2, p. 107, doi. 10.1111/cge.13546
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- Article
Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease.
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- 2005
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- Publication type:
- Letter
Mini Review Gaucher's disease: a paradigm for interventional genetics.
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- Clinical Genetics, 2004, v. 65, n. 2, p. 77, doi. 10.1111/j.0009-9163.2004.00217.x
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- Article
Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.
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- CNS Neuroscience & Therapeutics, 2016, v. 22, n. 7, p. 568, doi. 10.1111/cns.12542
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- Article
Diabetes Self-Management and Hospitalization.
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- Journal of Nursing Scholarship, 1988, v. 20, n. 2, p. 74, doi. 10.1111/j.1547-5069.1988.tb00034.x
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- Publication type:
- Article
VO2 and EMG activity kinetics during moderate and severe constant work rate exercise in trained cyclists.
- Published in:
- 2004
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- Publication type:
- Journal Article
The production of 3aα-H-4α-(3′-propionic acid)-5α-hydroxy-7aβ-methylhexahydro-1-indanone-δ-lactone by Nocardia restricta mutants.
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- Journal of Basic Microbiology, 1986, v. 26, n. 4, p. 225, doi. 10.1002/jobm.3620260411
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- Article
Catabolism of androst-4-ene-3,17-dione by mutant strains of Nacardia restricta.
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- Journal of Basic Microbiology, 1986, v. 26, n. 2, p. 83, doi. 10.1002/jobm.3620260206
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- Article