MARC Record from Library of Congress

LEADER: 04720nam a22003614a 4500
001 2010290962
003 DLC
005 20100203143418.0
008 100203s2007 enk 001 0 eng
010 $a 2010290962
015 $aGBA690630$2bnb
016 7 $a101306380$2DNLM
016 7 $a013584691$2Uk
020 $a9781846190995 (pbk.)
020 $a1846190991 (pbk.)
035 $a(OCoLC)ocm74525543
040 $aNLM$cNLM$dUKM$dYDXCP$dBAKER$dBTCTA$dSHH$dEIK$dTBS$dDRB$dNOR$dIOG$dDLC
042 $aukblsr$anlmcopyc$alccopycat
050 00 $aRC627.8$b.I548 2007
060 00 $a2007 E-858
060 10 $aWD 205$bI553 2007
082 04 $a616.39042$222
245 00 $aInherited metabolic diseases :$ba guide to 100 conditions /$cedited by Steve Hannigan.
260 $aOxford ;$aNew York :$bRadcliffe,$cc2007.
300 $axi, 167 p. ;$c25 cm.
500 $aIncludes index.
505 00 $gA$tnote from the Executive Director of Climb --$tSpecialist advisers --$tIntroduction --$g1.$tAmino acid disorders and urea cycle disorders --$tArgininosuccinic aciduria --$tCitrullinaemia --$tHartnup disease --$tHomocystinuria --$tMaple syrup disease --$tMolybdenum cofactor deficiency --$tNon-ketotic hyperglycinaemia --$tOrnithine transcarbamylase deficiency --$tPhenylketonuria --$tTyrosinaemia type 1 --$g2.$tOrganic acid disorders and disorders of fatty acid oxidation --$tCanavan leukodystrophy --$tCarnitine palmitoyltransferase deficiency --$tGlutaric aciduria type 1 --$tIsovaleric acidaemia --$tMedium-chain acyl CoA dehydrogenase deficiency --$tMethylglutaconic aciduria (3) - type 2 --$tMethlymalonic acidaemia --$tMultiple acyl CoA dehydrogenase deficiency --$tPropionic acidaemia --$tTrimethylaminuria --$g3.$tMitochondrial and peroxisomal disorders --$tAdrenoleukodystrophy - X-linked --$tAlper's disease --$tFumarase deficiency --$tKearns-Sayre syndrome --$tLeigh syndrome --$tMitochondrial encephalopathy, lactic acidosis and stroke-like episodes --$tMitochondrial respiratory chain complex IV --$tPearson's syndrome --$tPyruvate dehydrogenase deficiency --$tZellweger syndrome --
505 00 $g4.$tLysosomal, sterol and lipid disorders --$tAnderson-Fabry disease -$tBatten disease - infantile form --$tCystinosis --$tFucosidosis --$tGaucher disease type 1 --$tGM2 gangliosidosis type 2 - infantile form --$tLipodystrophy - Berardinelli-Seip syndrome --$tMucopolysaccharidosis type 2 --$tNiemann-Pick disease - type A --$tTay-Sachs disease - infantile form --$g5.$tCarbohydrate syndrome --$tCongenital disorders of glycosylation - type 1a --$tFanconi-Bickel syndrome --$tFructose intolerance - hereditary --$tGalactosaemia --$tGlucose transporter type 1 deficiency --$tGlycogen storage disease type III --$tGlycogen synthase deficiency --$tUridine diphosphate galactose-4-epimerase deficiency --$g6.$tPurine, pyrimidine and porphyria disorders --$tAcute intermittent porphyria --$tAdenosine deaminase deficiency --$tAdenylosuccinate lyase deficiency --$tDihydropyrimidine dehydrogenase deficiency --$tLesch-Nyhan disease --$tMyoadenylate deaminase deficiency --$tPurine nucleoside phosphorylase deficiency --$tPyrimidine 5'-nucleotidase deficiency --$tVariegate porphyria --$tXanthine oxidase deficiency --
505 00 $g7.$tHormone disorders --$tPseudohypoaldosteronism type 1 --$tACTH deficiency --$tAlbright hereditary osteodystrophy --$tBannayan-Riley-Ruvalcaba syndrome --$tCoffin-Siris syndrome --$tCongenital adrenal hyperplasia - 3-beta-hydroxysteroid dehydrogenase --$tGrowth hormone deficiency --$tHypopituitarism --$tLeprechaunism --$tPrader-Willi syndrome --$g8.$tMusculoskeletal disorders and connective tissue disorders --$tAmyloidosis --$tCharcot-Marie-Tooth disease --$tCoffin-Lowry syndrome --$tEpidermolysis bullosa --$tHutchinson-Gilford progeria --$tLafora body disease --$tLowe syndrome --$tRussell-Silver syndrome --$tVelocardiofacial syndrome --$tX-linked hypophosphataemic rickets --$g9.$tBlood and immune system disorders --$tAcrodermatitis enteropathica --$tAlpha-1-antitrypsin deficiency --$tAtaxia telangiectasia --$tBlue rubber bleb naevus syndrome --$tFactor X deficiency --$tGilbert syndrome --$tGlucose-6-phosphate dehydrogenase deficiency --$tTurner syndrome --$tVon Willebrand disease --$tWiskott-Aldrich syndrome --$g10.$tAssociated disorders --$tBloom syndrome --$tCockayne syndrome --$tDrash syndrome --$tHallervorden-Spatz syndrome --$tMenkes disease --$tPelizaeus-Merzbacher disease --$tReye syndrome --$tSmith-Lemil-Opitz syndrome --$tTimothy syndrome --$tXeroderma pigmentosum --$tIndex.
650 12 $aMetabolism, Inborn Errors.
650 0 $aMetabolism, Inborn errors of.
700 1 $aHannigan, Steve.
710 2 $aNational Information Centre for Metabolic Diseases.