LEADER 02460nam 2200637Ia 450 001 9910813975003321 005 20230607214744.0 010 $a1-107-12616-9 010 $a1-280-15980-4 010 $a9786610159802 010 $a1-139-13040-4 010 $a0-511-12192-X 010 $a0-511-04288-4 010 $a0-511-14782-1 010 $a0-511-05466-1 035 $a(CKB)1000000000001468 035 $a(EBL)202167 035 $a(OCoLC)171135621 035 $a(SSID)ssj0000123553 035 $a(PQKBManifestationID)11139386 035 $a(PQKBTitleCode)TC0000123553 035 $a(PQKBWorkID)10007938 035 $a(PQKB)10984623 035 $a(MiAaPQ)EBC202167 035 $a(Au-PeEL)EBL202167 035 $a(CaPaEBR)ebr10023547 035 $a(CaONFJC)MIL15980 035 $a(EXLCZ)991000000000001468 100 $a20011002d2002 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 12$aA clinical guide to inherited metabolic diseases /$fJoe T.R. Clarke 205 $a2nd ed. 210 $aCambridge, U.K. ;$aNew York $cCambridge University Press$d2002 215 $a1 online resource (307 p.) 300 $aDescription based upon print version of record. 311 $a0-521-89076-4 320 $aIncludes bibliographical references and index. 327 $aCover; Half-title; Title; Copyright; Dedicaton; Contents; Preface; Foreword; 1 General principles; 2 Neurologic syndrome; 3 Metabolic acidosis; 4 Hepatic syndrome; 5 Cardiac syndromes; 6 Storage syndrome and dysmorphism; 7 Acute metabolic illness in the newborn; 8 Newborn screening; 9 Laboratory investigation; 10 Treatment; Index 330 $aThis clinically organized, user-friendly, handbook is intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis: how to determine that this is an inherited metabolic disease, and where to go from here to establish a diagnosis. 606 $aMetabolism, Inborn errors of 606 $aDiagnosis, Differential 615 0$aMetabolism, Inborn errors of. 615 0$aDiagnosis, Differential. 676 $a616.3/9042 700 $aClarke$b Joe T. R$01689778 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910813975003321 996 $aA clinical guide to inherited metabolic diseases$94065091 997 $aUNINA