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1. Full Text Fabry disease
by Germain, Dominique P
Orphanet journal of rare diseases, ISSN 1750-1172, 2010, Volume 5, Issue 1, pp. 30 - 30
Case studies | Care and treatment | Diagnosis | Fabry's disease | Risk factors | Genes | Family medical history | Medical screening | Fever | Quality of life | Children & youth | Proteins | Genotype & phenotype | Pain | Irritable bowel syndrome | Standard deviation | Mutation | Females | Index Medicus
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2. Full Text Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry
by Elliott, Susan and Buroker, Norman and Cournoyer, Jason J and Potier, Anna M and Trometer, Joseph D and Elbin, Carole and Schermer, Mack J and Kantola, Jaana and Boyce, Aaron and Turecek, Frantisek and Gelb, Michael H and Scott, C. Ronald
Molecular genetics and metabolism, ISSN 1096-7192, 08/2016, Volume 118, Issue 4, pp. 304 - 309
Pompe disease | Tandem mass spectrometry | Hurler disease | Gaucher disease | Lysosomal storage disorders | Krabbe disease | Niemann-Pick-A/B disease | Dried blood spot | Newborn screening | Fabry disease | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Dried Blood Spot Testing | Glucosylceramidase - blood | Humans | Mucopolysaccharidosis I - physiopathology | Male | Gaucher Disease - blood | Neonatal Screening | Leukodystrophy, Globoid Cell - physiopathology | Tandem Mass Spectrometry | Fabry Disease - blood | Female | Gaucher Disease - physiopathology | Lysosomal Storage Diseases - blood | Galactosylceramidase - blood | Glycogen Storage Disease Type II - blood | Infant, Newborn | Lysosomal Storage Diseases - classification | Mucopolysaccharidosis I - blood | alpha-Glucosidases - blood | Niemann-Pick Diseases - blood | Lysosomal Storage Diseases - genetics | Enzyme Assays | Niemann-Pick Diseases - physiopathology | Lysosomal Storage Diseases - pathology | Glycogen Storage Disease Type II - physiopathology | alpha-Galactosidase - blood | Fabry Disease - physiopathology | Iduronidase - blood | Leukodystrophy, Globoid Cell - blood | Sphingomyelin Phosphodiesterase - blood | Medicine, Experimental | Medical research | Medical screening | Mass spectrometry | Index Medicus | Niemann-Pick-A | B disease
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3. Full Text Fabry's disease
by Zarate, Yuri A, MD and Hopkin, Robert J, Dr
The Lancet (British edition), ISSN 0140-6736, 2008, Volume 372, Issue 9647, pp. 1427 - 1435
Internal Medicine | Errors of metabolism | Biological and medical sciences | Metabolic diseases | General aspects | Medical sciences | Lipids (lysosomal enzyme disorders, storage diseases) | alpha-Galactosidase - genetics | alpha-Galactosidase - therapeutic use | Fabry Disease - epidemiology | Humans | Sex Factors | Fabry Disease - physiopathology | Female | Male | alpha-Galactosidase - metabolism | Fabry Disease - therapy | Fabry Disease - diagnosis | Care and treatment | Genetic aspects | Diagnosis | Fabry's disease | Risk factors | Index Medicus | Abridged Index Medicus
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4. Full Text Fabry disease
by Germain, Dominique P
Orphanet journal of rare diseases, 11/2010, Volume 5, p. 30
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Kidney Diseases - physiopathology | alpha-Galactosidase - genetics | Enzyme Replacement Therapy | alpha-Galactosidase - therapeutic use | Cardiovascular Diseases - physiopathology | Chromosomes, Human, X - genetics | Kidney - pathology | Fabry Disease - genetics | Kidney Diseases - pathology | alpha-Galactosidase - analysis | Humans | Child, Preschool | Male | Cardiovascular Diseases - genetics | Kidney Diseases - genetics | Randomized Controlled Trials as Topic | Fabry Disease - physiopathology | Adult | Female | Fabry Disease - therapy | Child | Fabry Disease - diagnosis
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5. Full Text Fabry disease
by Germain, Dominique P
Orphanet journal of rare diseases, 11/2010, Volume 5, p. 30
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Kidney Diseases - physiopathology | alpha-Galactosidase - genetics | Enzyme Replacement Therapy | alpha-Galactosidase - therapeutic use | Cardiovascular Diseases - physiopathology | Chromosomes, Human, X - genetics | Kidney - pathology | Fabry Disease - genetics | Kidney Diseases - pathology | alpha-Galactosidase - analysis | Humans | Child, Preschool | Male | Cardiovascular Diseases - genetics | Kidney Diseases - genetics | Randomized Controlled Trials as Topic | Fabry Disease - physiopathology | Adult | Female | Fabry Disease - therapy | Child | Fabry Disease - diagnosis
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6. Full Text Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference
by Schiffmann, Raphael and Hughes, Derralynn A and Linthorst, Gabor E and Ortiz, Alberto and Svarstad, Einar and Warnock, David G and West, Michael L and Wanner, Christoph and Bichet, Daniel G and Christensen, Erik Ilsø and Correa-Rotter, Ricardo and Elliott, Perry M and Feriozzi, Sandro and Fogo, Agnes B and Germain, Dominique P and Hollak, Carla E.M and Hopkin, Robert J and Johnson, Jack and Kantola, Ilkka and Kopp, Jeffrey B and Kröner, Jürgen and Linhart, Aleš and Martins, Ana Maria and Matern, Dietrich and Mehta, Atul B and Mignani, Renzo and Najafian, Behzad and Narita, Ichiei and Nicholls, Kathy and Obrador, Greg T and Oliveira, João Paulo and Pisani, Antonio and Politei, Juan and Ramaswami, Uma and Ries, Markus and Terryn, Wim and Tøndel, Camilla and Torra, Roser and Vujkovac, Bojan and Waldek, Stephen and Walter, Jerry and Conference Participants
Kidney international, ISSN 0085-2538, 02/2017, Volume 91, Issue 2, pp. 284 - 293
Fabry disease | Fabry nephropathy | standard of care | chronic kidney disease | enzyme replacement therapy | Chronic kidney disease | Enzyme replacement therapy | Standard of care | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | alpha-Galactosidase - genetics | Enzyme Replacement Therapy | Predictive Value of Tests | alpha-Galactosidase - therapeutic use | Genetic Predisposition to Disease | Nephrology | Genetic Testing | Prognosis | Fabry Disease - epidemiology | Risk Assessment | Fabry Disease - genetics | Humans | Risk Factors | Heredity | Disease Progression | Phenotype | Pedigree | Biomedical Research | Fabry Disease - therapy | Mutation | Fabry Disease - diagnosis | Index Medicus
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