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2010, ISBN 0521517818, xiii, 223
"This book summarizes the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. These agents are... 
Metabolism, Inborn errors of | Orphan Drug Production | Chemotherapy | Genetic disorders | drug therapy | Small Molecule Libraries | Genetic Diseases, Inborn | Rare Diseases | Gene therapy | therapeutic use | Clinical & internal medicine | Handbooks, manuals, etc
Book
EMBO Molecular Medicine, ISSN 1757-4676, 03/2017, Volume 9, Issue 3, pp. 289 - 292
The recent approval of Strimvelis, the first ex vivo gene therapy to gain marketing authorization (Schimmer & Breazzano, ), has drawn attention to Fondazione... 
MEDICINE, RESEARCH & EXPERIMENTAL | Humans | Rare Diseases | Index Medicus | Genetics, Gene Therapy & Genetic Disease
Journal Article
Molecular Therapy, ISSN 1525-0016, 10/2017, Volume 25, Issue 10, pp. 2225 - 2225
Journal Article
2013, 1, ISBN 9781906093525, vi, 272
This book presents some of the latest developments in the world of rare disease entrepreneurship from a global group of experts. It examines the topic from the... 
Rare diseases | Treatment | Research | Drug development | Social entrepreneurship | Corporate Social Responsibility & Business Ethics | Environment & Business | Orphan Drug Production | Europe | Entrepreneurship | Organization & administration | Drug therapy | Methods
Book
Applied Clinical Trials, ISSN 1064-8542, 12/2016, Volume 25, Issue 12, p. 6
  FDA Commissioner Robert Califf commented at the National Organization for Rare Disorders Summit that FDA staffers want to collaborate with sponsors and... 
Rare diseases | Forecasts and trends | Drug therapy | Drug approval | FDA approval
Journal Article
Current Gene Therapy, ISSN 1566-5232, 2018, Volume 18, Issue 2, pp. 68 - 89
Journal Article
Journal Article
Nature Reviews Drug Discovery, ISSN 1474-1776, 05/2012, Volume 11, Issue 5, pp. 419 - 419
Journal Article
2010, ISBN 0521517818
"This book summarizes the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. These agents are... 
Metabolism, Inborn errors of | Orphan Drug Production | Chemotherapy | Genetic disorders | drug therapy | Small Molecule Libraries | Genetic Diseases, Inborn | Rare Diseases | Gene therapy | therapeutic use
Web Resource
Journal Article
Current Gene Therapy, ISSN 1566-5232, 2018, Volume 18, Issue 2, pp. 96 - 106
Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galactosidase A gene resulting in deficiency of this lysosomal... 
Fabry disease | Viral vectors | Chaperone therapy | Alpha galactosidase A | Gene therapy | Enzyme replacement therapy | MOUSE-MODEL | LYSOSOMAL STORAGE DISEASES | ALPHA-GALACTOSIDASE-A | IN-VITRO | CLINICAL MANIFESTATIONS | GENETICS & HEREDITY | MICE | QUALITY-OF-LIFE | PHARMACOLOGICAL CHAPERONE | GLOBOTRIAOSYLCERAMIDE | Rare Diseases - genetics | Recombinant Proteins - therapeutic use | alpha-Galactosidase - genetics | Dependovirus - genetics | Trihexosylceramides - metabolism | alpha-Galactosidase - therapeutic use | Isoenzymes - therapeutic use | Fabry Disease - genetics | Humans | Biomarkers - analysis | alpha-Galactosidase - administration & dosage | Recombinant Proteins - administration & dosage | Enzyme Replacement Therapy - adverse effects | Enzyme Replacement Therapy - methods | Animals | Rare Diseases - therapy | Isoenzymes - administration & dosage | Mice | Fabry Disease - therapy | Mutation | Genetic Vectors | Disease Models, Animal | Genetic Therapy - adverse effects | Genetic Therapy - methods | Heart | Animal models | Recombination | Enzyme activity | Central nervous system | Medical services | Galactosidase | Chaperones | Tissues | Accumulation | Cerebrovascular system | Renal insufficiency | Pain | Enzymatic activity | a-Galactosidase | Bioaccumulation | Genetics | Bioindicators | Diagnosis | Heart diseases | Recombinant | Enzymes | Signs and symptoms | Stroke | Typing | Medical treatment | Hypohidrosis | Heredity | Pharmacology | Coronary artery disease | Fabry's disease | Quality of life | Laboratory tests | Glycosphingolipids | Stem cells | Biomarkers | Ventricle | Females | Hypertrophy | Proteinuria
Journal Article
Kidney International, ISSN 0085-2538, 10/2017, Volume 92, Issue 4, pp. 796 - 808
Journal Article