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2010290962 contributor B11818737.
2010290962 contributor B11818738.
2010290962 created "c2007.".
2010290962 date "2007".
2010290962 date "c2007.".
2010290962 dateCopyrighted "c2007.".
2010290962 description "4. Lysosomal, sterol and lipid disorders -- Anderson-Fabry disease - Batten disease - infantile form -- Cystinosis -- Fucosidosis -- Gaucher disease type 1 -- GM2 gangliosidosis type 2 - infantile form -- Lipodystrophy - Berardinelli-Seip syndrome -- Mucopolysaccharidosis type 2 -- Niemann-Pick disease - type A -- Tay-Sachs disease - infantile form -- 5. Carbohydrate syndrome -- Congenital disorders of glycosylation - type 1a -- Fanconi-Bickel syndrome -- Fructose intolerance - hereditary -- Galactosaemia -- Glucose transporter type 1 deficiency -- Glycogen storage disease type III -- Glycogen synthase deficiency -- Uridine diphosphate galactose-4-epimerase deficiency -- 6. Purine, pyrimidine and porphyria disorders -- Acute intermittent porphyria -- Adenosine deaminase deficiency -- Adenylosuccinate lyase deficiency -- Dihydropyrimidine dehydrogenase deficiency -- Lesch-Nyhan disease -- Myoadenylate deaminase deficiency -- Purine nucleoside phosphorylase deficiency -- Pyrimidine 5'-nucleotidase deficiency -- Variegate porphyria -- Xanthine oxidase deficiency --".
2010290962 description "7. Hormone disorders -- Pseudohypoaldosteronism type 1 -- ACTH deficiency -- Albright hereditary osteodystrophy -- Bannayan-Riley-Ruvalcaba syndrome -- Coffin-Siris syndrome -- Congenital adrenal hyperplasia - 3-beta-hydroxysteroid dehydrogenase -- Growth hormone deficiency -- Hypopituitarism -- Leprechaunism -- Prader-Willi syndrome -- 8. Musculoskeletal disorders and connective tissue disorders -- Amyloidosis -- Charcot-Marie-Tooth disease -- Coffin-Lowry syndrome -- Epidermolysis bullosa -- Hutchinson-Gilford progeria -- Lafora body disease -- Lowe syndrome -- Russell-Silver syndrome -- Velocardiofacial syndrome -- X-linked hypophosphataemic rickets -- 9. Blood and immune system disorders -- Acrodermatitis enteropathica -- Alpha-1-antitrypsin deficiency -- Ataxia telangiectasia -- Blue rubber bleb naevus syndrome -- Factor X deficiency -- Gilbert syndrome -- Glucose-6-phosphate dehydrogenase deficiency -- Turner syndrome -- Von Willebrand disease -- Wiskott-Aldrich syndrome -- 10. Associated disorders -- Bloom syndrome -- Cockayne syndrome -- Drash syndrome -- Hallervorden-Spatz syndrome -- Menkes disease -- Pelizaeus-Merzbacher disease -- Reye syndrome -- Smith-Lemil-Opitz syndrome -- Timothy syndrome -- Xeroderma pigmentosum -- Index.".
2010290962 description "A note from the Executive Director of Climb -- Specialist advisers -- Introduction -- 1. Amino acid disorders and urea cycle disorders -- Argininosuccinic aciduria -- Citrullinaemia -- Hartnup disease -- Homocystinuria -- Maple syrup disease -- Molybdenum cofactor deficiency -- Non-ketotic hyperglycinaemia -- Ornithine transcarbamylase deficiency -- Phenylketonuria -- Tyrosinaemia type 1 -- 2. Organic acid disorders and disorders of fatty acid oxidation -- Canavan leukodystrophy -- Carnitine palmitoyltransferase deficiency -- Glutaric aciduria type 1 -- Isovaleric acidaemia -- Medium-chain acyl CoA dehydrogenase deficiency -- Methylglutaconic aciduria (3) - type 2 -- Methlymalonic acidaemia -- Multiple acyl CoA dehydrogenase deficiency -- Propionic acidaemia -- Trimethylaminuria -- 3. Mitochondrial and peroxisomal disorders -- Adrenoleukodystrophy - X-linked -- Alper's disease -- Fumarase deficiency -- Kearns-Sayre syndrome -- Leigh syndrome -- Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes -- Mitochondrial respiratory chain complex IV -- Pearson's syndrome -- Pyruvate dehydrogenase deficiency -- Zellweger syndrome --".
2010290962 extent "xi, 167 p. ;".
2010290962 identifier "1846190991 (pbk.)".
2010290962 identifier "9781846190995 (pbk.)".
2010290962 issued "2007".
2010290962 issued "c2007.".
2010290962 language "eng".
2010290962 publisher "Oxford ; New York : Radcliffe,".
2010290962 subject "2007 E-858".
2010290962 subject "616.39042 22".
2010290962 subject "Metabolism, Inborn Errors.".
2010290962 subject "Metabolism, Inborn errors of.".
2010290962 subject "RC627.8 .I548 2007".
2010290962 subject "WD 205 I553 2007".
2010290962 tableOfContents "4. Lysosomal, sterol and lipid disorders -- Anderson-Fabry disease - Batten disease - infantile form -- Cystinosis -- Fucosidosis -- Gaucher disease type 1 -- GM2 gangliosidosis type 2 - infantile form -- Lipodystrophy - Berardinelli-Seip syndrome -- Mucopolysaccharidosis type 2 -- Niemann-Pick disease - type A -- Tay-Sachs disease - infantile form -- 5. Carbohydrate syndrome -- Congenital disorders of glycosylation - type 1a -- Fanconi-Bickel syndrome -- Fructose intolerance - hereditary -- Galactosaemia -- Glucose transporter type 1 deficiency -- Glycogen storage disease type III -- Glycogen synthase deficiency -- Uridine diphosphate galactose-4-epimerase deficiency -- 6. Purine, pyrimidine and porphyria disorders -- Acute intermittent porphyria -- Adenosine deaminase deficiency -- Adenylosuccinate lyase deficiency -- Dihydropyrimidine dehydrogenase deficiency -- Lesch-Nyhan disease -- Myoadenylate deaminase deficiency -- Purine nucleoside phosphorylase deficiency -- Pyrimidine 5'-nucleotidase deficiency -- Variegate porphyria -- Xanthine oxidase deficiency --".
2010290962 tableOfContents "7. Hormone disorders -- Pseudohypoaldosteronism type 1 -- ACTH deficiency -- Albright hereditary osteodystrophy -- Bannayan-Riley-Ruvalcaba syndrome -- Coffin-Siris syndrome -- Congenital adrenal hyperplasia - 3-beta-hydroxysteroid dehydrogenase -- Growth hormone deficiency -- Hypopituitarism -- Leprechaunism -- Prader-Willi syndrome -- 8. Musculoskeletal disorders and connective tissue disorders -- Amyloidosis -- Charcot-Marie-Tooth disease -- Coffin-Lowry syndrome -- Epidermolysis bullosa -- Hutchinson-Gilford progeria -- Lafora body disease -- Lowe syndrome -- Russell-Silver syndrome -- Velocardiofacial syndrome -- X-linked hypophosphataemic rickets -- 9. Blood and immune system disorders -- Acrodermatitis enteropathica -- Alpha-1-antitrypsin deficiency -- Ataxia telangiectasia -- Blue rubber bleb naevus syndrome -- Factor X deficiency -- Gilbert syndrome -- Glucose-6-phosphate dehydrogenase deficiency -- Turner syndrome -- Von Willebrand disease -- Wiskott-Aldrich syndrome -- 10. Associated disorders -- Bloom syndrome -- Cockayne syndrome -- Drash syndrome -- Hallervorden-Spatz syndrome -- Menkes disease -- Pelizaeus-Merzbacher disease -- Reye syndrome -- Smith-Lemil-Opitz syndrome -- Timothy syndrome -- Xeroderma pigmentosum -- Index.".
2010290962 tableOfContents "A note from the Executive Director of Climb -- Specialist advisers -- Introduction -- 1. Amino acid disorders and urea cycle disorders -- Argininosuccinic aciduria -- Citrullinaemia -- Hartnup disease -- Homocystinuria -- Maple syrup disease -- Molybdenum cofactor deficiency -- Non-ketotic hyperglycinaemia -- Ornithine transcarbamylase deficiency -- Phenylketonuria -- Tyrosinaemia type 1 -- 2. Organic acid disorders and disorders of fatty acid oxidation -- Canavan leukodystrophy -- Carnitine palmitoyltransferase deficiency -- Glutaric aciduria type 1 -- Isovaleric acidaemia -- Medium-chain acyl CoA dehydrogenase deficiency -- Methylglutaconic aciduria (3) - type 2 -- Methlymalonic acidaemia -- Multiple acyl CoA dehydrogenase deficiency -- Propionic acidaemia -- Trimethylaminuria -- 3. Mitochondrial and peroxisomal disorders -- Adrenoleukodystrophy - X-linked -- Alper's disease -- Fumarase deficiency -- Kearns-Sayre syndrome -- Leigh syndrome -- Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes -- Mitochondrial respiratory chain complex IV -- Pearson's syndrome -- Pyruvate dehydrogenase deficiency -- Zellweger syndrome --".
2010290962 title "Inherited metabolic diseases : a guide to 100 conditions / edited by Steve Hannigan.".
2010290962 type "text".