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2004, ISBN 0198508786, xxvii. 447
Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain... 
Brain | Lysosomal storage diseases | Treatment | Metabolism | Disorders | Disorders of the Nervous System
Book
2015, ISBN 1621821374, xix, 388 p., 12 unnumbered p.s of plates
.... It recounts the now century long effort of small groups of physicians and scientists to take on some of these genetic diseases... 
Genetic disorders in children | MEDICAL / Diseases | Medical genetics | SCIENCE / Life Sciences / Genetics & Genomics | Genetic Diseases, Inborn | MEDICAL / Pediatrics | Rare Diseases | Research | Child
Book
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... 
Metabolism, Inborn errors of | Orphan Drug Production | Chemotherapy | Genetic disorders | drug therapy | Small Molecule Libraries | Genetic Diseases, Inborn | Rare Diseases | Gene therapy | therapeutic use | Handbooks, manuals, etc
Book
2007, ISBN 9780387709093, xix, 562
This book describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapies... 
Lysosomal storage diseases | Metabolism, Inborn errors of | Life Sciences | Human Genetics | Biochemistry, general | Biomedical and Life Sciences | Epidemiology | Cell Biology
Book
2016, ISBN 3662497697, 655
This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM... 
Neurology
eBook
2010, 3rd ed., ISBN 0470191414, xxii, 962
Dr. Suzanne Cassidy is Chief, Division of Human Genetics, Professor of Clinical Pediatrics, and Director of the Residency Training Program in Medical Genetics... 
Genetic disorders | Abnormalities, Multiple - therapy | Abnormalities, Multiple - diagnosis | Genetic Diseases, Inborn - therapy | Variation | Genetic Diseases, Inborn - diagnosis | Human genetics | Diseases
Book
Journal of inherited metabolic disease, ISSN 0141-8955, 3/2015, Volume 38, Issue 2, pp. 371 - 372
... of rare diseases without pharmacological treatment that carries significant morbidity in children and adults. As with other rare disorders, few clinical trials... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Carnitine O-Palmitoyltransferase - genetics | Lipid Metabolism, Inborn Errors - genetics | Lipolysis - drug effects | Muscular Diseases - enzymology | Humans | Lipid Metabolism, Inborn Errors - drug therapy | Metabolism, Inborn Errors - enzymology | Lipid Metabolism, Inborn Errors - enzymology | Heart Rate - drug effects | Muscular Diseases - physiopathology | Muscular Diseases - drug therapy | Carnitine O-Palmitoyltransferase - deficiency | Fatty Acids - metabolism | Mitochondrial Diseases - genetics | Bezafibrate - therapeutic use | Mitochondrial Diseases - drug therapy | Oxidation-Reduction | Lipid Metabolism, Inborn Errors - diagnosis | Acyl-CoA Dehydrogenase, Long-Chain - genetics | Treatment Outcome | Bezafibrate - adverse effects | Metabolism, Inborn Errors - genetics | Mitochondrial Diseases - enzymology | Muscular Diseases - diagnosis | Lipid Metabolism, Inborn Errors - physiopathology | Metabolism, Inborn Errors - diagnosis | Metabolism, Inborn Errors - drug therapy | Muscular Diseases - genetics | Mitochondrial Diseases - physiopathology | Metabolism, Inborn Errors - physiopathology | Mitochondrial Diseases - diagnosis | Acyl-CoA Dehydrogenase, Long-Chain - deficiency | Fatty acids | Index Medicus | Life Sciences
Journal Article
2006, Fourth, Revised Edition, ISBN 9783540287834, 579
This classical textbook has become indispensable for those in the front line dealing with metabolic disorders. This 4th edition has been thoroughly updated and... 
Metabolism, Inborn errors of | Human Genetics | Medicine | Pediatrics | Neurology | Medicine & Public Health | Endocrinology | Metabolism
eBook
2017, Edition 15., ISBN 0702066850, x, 400 pages
"Everything a student needs to know about medical genetics is here in the 15th ediction of this award-winning textbook. Thoroughly updated and revised... 
Genetic Diseases, Inborn | Genetics, Medical | Human genetics | Medical genetics
Book
Journal of inherited metabolic disease, ISSN 1573-2665, 11/2010, Volume 34, Issue 1, pp. 159 - 164
Journal Article
2006, 3rd ed., ISBN 0521614996, xx, 338
This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases... 
Metabolism, Inborn errors of | Diagnosis, Differential | genetics | therapy | Metabolism, Inborn Errors | diagnosis | Laboratory Techniques and Procedures | Metabolic disorders in children
Book
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 06/2008, Volume 79, Issue 6, pp. 725 - 728
Background:Cobalamin C disease is the most common inborn error of cobalamin metabolism with an autosomal recessive mode of inheritance and mutations within the MMACHC gene... 
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Gene Duplication | Follow-Up Studies | Genes, Recessive - genetics | Humans | Male | Hydroxocobalamin - administration & dosage | Mutation, Missense | Brain Diseases, Metabolic, Inborn - diagnosis | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - genetics | DNA Mutational Analysis | Spinal Cord - pathology | Adult | Female | Brain Diseases, Metabolic, Inborn - genetics | Methylmalonic Acid - urine | Cerebral Ventricles - pathology | Homocystinuria - drug therapy | Injections, Intramuscular | Carrier Proteins - genetics | Magnetic Resonance Imaging | Adolescent | Chromosome Aberrations | Brain - pathology | Neurologic Examination - drug effects | Brain Diseases, Metabolic, Inborn - drug therapy | Infusions, Intravenous | Homocystinuria - diagnosis | Homocystinuria - genetics | Genetic Carrier Screening | Amino Acid Metabolism, Inborn Errors - drug therapy | Development and progression | Genetic aspects | Research | Vitamin B12 deficiency | Pathology, Molecular | Index Medicus | Brain | Brain Diseases, Metabolic, Inborn | Neurons and Cognition | Heterozygote Detection | Life Sciences | Homocystinuria | Cerebral Ventricles | Carrier Proteins | Hydroxocobalamin | Genes, Recessive | Neurologic Examination | Spinal Cord | Amino Acid Metabolism, Inborn Errors | Cognitive Sciences | Methylmalonic Acid
Journal Article
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