LEADER 08705oam 22004691 450 001 9910794013203321 005 20230814234319.0 010 $a1-315-11403-8 010 $a1-138-19660-6 010 $a1-138-19662-2 024 7 $a10.1201/9781315114033 035 $a(CKB)4100000011324053 035 $a(MiAaPQ)EBC6236323 035 $a(OCoLC)1173825014$z(OCoLC)1164374776 035 $a(OCoLC-P)1173825014 035 $a(FlBoTFG)9781315114033 035 $a(EXLCZ)994100000011324053 100 $a20180119d2018 uy 0 101 0 $aeng 135 $aur||||||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aAtlas of inherited metabolic diseases 205 $aFourth edition. 210 1$aBoca Raton :$cCRC Press,$d2018. 215 $a1 online resource (871 pages) 311 $a1-138-19659-2 327 $aPART 1: ORGANIC ACIDEMIAS. Introduction to the organic acidemias. Propionic academia. Methylmalonic academia. Cobalamin C, D, F, G diseases; methylmalonic aciduria and homocystinuria. The methylmalonic aciduria of deficiency of AcylCoA synthetase (ACSF3). Multiple carboxylase deficiency/holocarboxylase synthetase deficiency. Multiple carboxylase deficiency/biotinidase deficiency. Isovaleric academia. Glutaric aciduria (type I). 3-MethylcrotonylCoA carboxylase deficiency/3-methylcrotonylglycinuria. D-2-hydroxyglutaric aciduria. L-2-hydroxyglutaric aciduria. 4-Hydroxybutyric aciduria. PART 2: DISORDERS OF AMINO ACID METABOLOISM. Alkaptonuria. Phenylketonuria. Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin. Biogenic amines. Homocystinuria. Maple syrup urine disease (branched-chain oxoaciduria). Branched chain keto acid dehydrogenase kinase (BCKDK) deficiency. Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency. Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency. Nonketotic hyperglycinemia. Serine deficiencies. PART 3: HYPERAMMONEMIA AND DISORDERS OF THE UREA CYCLE. Introduction to hyperammonemia and disorders of the urea cycle. Ornithine transcarbamylase deficiency. Carbamylphosphate synthetase deficiency. Citrullinemia type I. Argininosuccinic aciduria. Argininemia. Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome. Lysinuric protein intolerance. Glutamine synthetase deficiency. PART 4: DISORDERS OF FATTY ACID OXIDATION. Introduction to disorders of fatty acid oxidation. Carnitine transporter deficiency. Carnitine-ayclcarnitine translocase deficiency. Carnitine palmitoyl transferase I deficiency. Carnitine palmitoyl transferase II deficiency, lethal neonatal. Medium-chain acyl CoA dehydrogenase deficiency. Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Long chain L-3-hydroxyacl CoA dehydrogenase deficiency -- (trifunctional protein) deficiency. Short-chain acyl CoA dehydrogenase (SCAD) deficiency. Short-chain 3-hydroxyacylCoA dehydrogenase (SCHAD) deficiency. Short/branched-chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency. Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria, type II ethylmalonic-adipic aciduria. 3-Hydroxy-3-methylglutarylCoA lyase deficiency. PART 5: THE LACTIC ACIDEMIAS AND MITOCHONDRIAL DISEASE. Introduction to the lactic acidemias. Pyruvate carboxylase deficiency. Fructose-1,6-diphosphatase deficiency. Deficiency of the pyruvate dehydrogenase complex. Mitochondrial encephalomyelopathy, lactic acidosis, and stroke-like episodes (MELAS). Myoclonic epilepsy and ragged red fiber (MERRF) disease. Neurodegeneration, ataxia and retinitis pigmentosa (NARP). Kearns-Sayre syndrome. Pearson syndrome. The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency. PART 6: DISORDERS OF CARBOHYDRATE METABOLISM. Galactosemia. Glycogen storage disease: introduction. Glycogenosis type I -- von Gierke disease. Glycogenosis type II/Pompe/lysosomal [alpha]-glucosidase deficiency. Glycogenosis type III/amylo-1,6-glucosidase (debrancher) deficiency. PART 7: PEROXISOMAL DISORDERS. Adrenoleukodystrophy. Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis. PART 8: DISORDERS OF PURINE AND PYRIDINE METABOLISM. Introduction to the disorders of purine and pyrimidine deficiencies. Lesch-Nyhan disease and variants. Adenine phosphoribosyltransferase (APRT) deficiency. Phosphoribosylpyrophosphate synthetase and its abnormalities. Adenosine deaminase deficiency. Adenosine kinase deficiency. Purine nucleoside phosphorylase deficiency. Adenylosuccinate lyase deficiency. Santhinuria, xanthine oxidase deficiency. Orotic aciduria. Molybdenum cofactor deficiency. PART 9: MUCOPOLYSACCHARIDOSES. Introduction to mucopolysaccharidoses. Hurler disease/mucopolysaccharidosis type IH (MPSIH)/[alpha]-L-iduronidase deficiency. Scheie and Hurler-Scheie diseases/mucopolysaccharidosis IS and IHS/[alpha]-iduronidase deficiency. Hunter disease/mucopolysaccharidosis type II/iduronate sulfatase deficiency. Sanfilippo disease/mucopolysaccharidosis type III. Morquio syndrome/mucopolysaccharidosis type IV/keratan sulfaturia. Maroteaux-Lamy disease/mucopolysaccharidosis VI/N-acetylgalactosamine-4-sulfatase deficiency. Sly disease/[beta]-glucuronidase deficiency/mucopolysaccharidosis VII. PART 10: MUCOLIPIDOSIS. Mucolipidosis II and III/ (I-cell and pseudo-Hurler polydystrophy N-acetyl-glucosaminyl-l-phosphotransferase deficiency. PART 11: DISORDERS OF CHOLESTEROL AND NEUTRAL LIPID METABOLISM. Familial hypercholesterolemia. Mevalonic aciduria. Lipoprotein lipase deficiency/type I hyperlipoproteinemia. PART 12: LIPID STORAGE DISORDERS. Fabry disease. Tay-Sachs disease/hexosaminidase A deficiency. Sandhoff disease/GM2 gangliosidosis/deficiency of Hex A and Hex B subunit deficiency. Gaucher disease. Niemann-Pick disease. Niemann-Pick type C disease/cholesterol-processing abnormality. Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy. Lysosomal acid lipase deficiency: Wolman disease/cholesteryl ester storage disease. Fucosidosis. [alpha]-Mannosidosis ([beta]-Mannosidosis). Galactosialidosis. Metachromatic leukodystrophy. Multiple sulfatase deficiency. PART 13: MISCELLANEOUS. Disorders of vitamin B6 metabolism. PMM2-CDG (Congenital disorders of glycosylation, type Ia). Ethylmalonic encephalopathy. Disorders of creatine metabolism. GLUT1 deficiency. Hypophosphatasia. NBAS/RALF deficiency. [alpha]1-Antitrypsin deficiency. 330 $aIn a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features Fully updated to incorporate all new developments in the field Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide. 606 $aMetabolism$xDisorders$vAtlases 615 0$aMetabolism$xDisorders 676 $a616.39 700 $aNyhan$b William L.$f1926-$01537200 702 $aHoffman$b Georg 702 $aBarshop$b Bruce Allen 801 0$bOCoLC-P 801 1$bOCoLC-P 906 $aBOOK 912 $a9910794013203321 996 $aAtlas of inherited metabolic diseases$93786371 997 $aUNINA LEADER 05095oam 2201069 c 450 001 9910870901403321 005 20260302090207.0 010 $a9783847417750 010 $a3847417754 024 3 $a9783847417750 035 $a(MiAaPQ)EBC6886946 035 $a(Au-PeEL)EBL6886946 035 $a(CKB)21167712100041 035 $a(Verlag Barbara Budrich)9783847417750 035 $a(OCoLC)1296418516 035 $a(Perlego)3266810 035 $a(EXLCZ)9921167712100041 100 $a20260302d2022 uy 0 101 0 $ager 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 04$aDie Sprache der Stadt $eArchitektur- und urbane Raumbilder zwischen ästhetischer Subjektivierung und normalisierender Kommerzialisierung /$fMarkus Baum 205 $a1st ed. 210 $aLeverkusen$cVerlag Barbara Budrich$d2022 215 $a1 online resource (190 pages) 225 0 $aSchriften der Katholischen Hochschule Nordrhein-Westfalen 311 08$aPrint version: Baum, Markus Die Sprache der Stadt Leverkusen-Opladen : Verlag Barbara Budrich,c2022 9783847426165 327 $aMarkus Baum: Die Sprache der Stadt. Architektur(-fotografie) zwischen ästhetischer Subjektivität, Kommerzialisierung und normalisierten Blicken (Einleitung) ghost kid, zeta k, bXXm: Musikalische Interventionen Thomas Weidenhaupt, Markus Baum, Elke Smith, Iva Ivanova, Nisaan Uthayakumar, Antoon Jungbauer: Ästhetik und Bilder urbaner Architektur und Räume Maurice Funken: Fotografisch-künstlerische Positionen urbaner Architekturerfahrungen Günter Figal: Wohnbilder. Bewohnbare Architektur und Photographie Birgit Schillak-Hammers: Das Bild vom Bauhaus. Zur Architekturfotografie als Massenmedium damals und heute Markus Baum: Digitale Architekturfotografie. Bild- und gesellschaftswissenschaftliche Erkundungen ihrer nivellierenden Wirkung Jakob Becker: Tragische Poinier_innenarbeiter. Die gentrifizierende Funktion des Kreativmilieus Marius Otto: Quartiersbilder. Perspektiven auf Segregation und die Rolle von Fotografien und Karten bei der Territorialisierung sozialer Spaltungsprozesse 330 $aDer Band widmet sich dem Potential kreativen Ausdrucks, das die Auseinandersetzung mit städtischer Architektur mittels zeitgenössischer (digitaler) Technologien bietet, und dem gesellschaftlichen Kontext neoliberaler Bereicherungsökonomie und Stadtpolitik, der dieses Potential aufgrund der kommerzialisierten Präsentation von Architektur zu unterminieren droht. Neben wissenschaftlichen Auseinandersetzungen werden ästhetische Interventionen im Medium der Fotografie, Malerei und Musik vollzogen. The volume is dedicated to the potential of creative expression offered by the engagement with urban architecture by means of contemporary (digital) technologies, and to the social context of neoliberal enrichment economics and urban politics that threatens to undermine this potential due to the commercialized presentation of architecture. In addition to scientific discussions, aesthetic interventions are carried out in the medium of photography, painting and music. 410 0$aSchriften der Katholischen Hochschule Nordrhein-Westfalen 606 $aStadtsoziologie 606 $aurban sociology 606 $agentrification 606 $aGentrifizierung 606 $asegregation 606 $aSegregation 606 $aarchitecture 606 $aArchitektur 606 $aDigitalisierung 606 $adigitalization 606 $aBauhaus 606 $acommercialization 606 $aKommerzialisierung 606 $aaesthetics 606 $aPostfordismus 606 $aÄsthetik 606 $aphotography 606 $aFotografie 606 $apost-fordism 606 $asocial space 606 $aSozialraum 606 $aurban studies 606 $aUrban Studies 606 $araumbezogene Sozialplanung 606 $aspatial social planning 606 $aurbanism 615 4$aStadtsoziologie 615 4$aurban sociology 615 4$agentrification 615 4$aGentrifizierung 615 4$asegregation 615 4$aSegregation 615 4$aarchitecture 615 4$aArchitektur 615 4$aDigitalisierung 615 4$adigitalization 615 4$aBauhaus 615 4$acommercialization 615 4$aKommerzialisierung 615 4$aaesthetics 615 4$aPostfordismus 615 4$aÄsthetik 615 4$aphotography 615 4$aFotografie 615 4$apost-fordism 615 4$asocial space 615 4$aSozialraum 615 4$aurban studies 615 4$aUrban Studies 615 4$araumbezogene Sozialplanung 615 4$aspatial social planning 615 4$aurbanism 702 $aBaum$b Markus$cDr.$4edt 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910870901403321 996 $aDie Sprache der Stadt$94176034 997 $aUNINA