PISBN：9780128169261
出版社：Academic Press
出版时间：2020
作者：Jones,Patricia
主题词：Organic Acid Analysis,Gas Chromatography,Mass Spectrometry,Inborn Errors Of Metabolism,Organic Solvents,Clinical Laboratory,Specimen Collection,Glutaric Acidemia,Glutathione Synthetase Deficiency,Hydroxyglutaric Aciduria,Isovaleric Aciduria,Maple Syrup Urine Disease,Methylmalonic Aciduria,Ornithine Transcarbamylase Deficiency,Propionic Acidemia,Tyrosinemia,Chromatographic Patterns, Methylbutyrylglycinuria,Methylcrotonyl Coa Carboxylase Deficiency,Methylcrotonylglycinuria,Methylglutaconycoa Hydratase Deficiency,3Mcc Deficiency,3Mga,Hydroxybutyric Aciduria,Hydroxyphenylpyruvate Dioxygenase,Fluorouracil,Oxoproline,Alphmethylacetoacetic Aciduria,Amino Acids,Aminoacylase 2 Deficiency,Ammonia,Arginase,Arginine,Argininosuccinase Deficiency,Argininosuccinic Acid Lyase Deficiency,Argininosuccinic Aciduria,Asa,Asl Deficiency,Aspa Deficiency,Aspartoacylase Deficiency,Barth Syndrome,Bckd Deficiency,Biotin,Biotinidase Deficiency,Bkt,Branchechain Alphketoacid Dehydrogenase Deficiency,Branchechain Ketoaciduria,Canavan"S Disease,Carbamoylphosphate Synthetase Deficiency,Carnitine Palmitoyltransferase 1A Deficiency,Carnitine Shuttle,Carnitine Uptake Defect (Cud),Carnitinacylcarnitine Carrier Deficiency (Cact Deficiency),Cationic Amino Acid Transporter,Chromatography,Citrin Deficiency,Citrulline,Citrullinemia,Cobalamin Defects,Combined And Hydroxyglutaric Aciduria (D2L2Ad Omim # 615182),Congenital Lysinuria,Costeff Optic Atrophy,Cps1 Deficiency,Cpt1A,Cpt2 Deficiency,Hydroxyglutaric Aciduria (D2Hga) Types I (D2Hga1 Omim # 600721) And Ii (D2Hga2 Omim # 613657),Dibasic Aminoaciduria Ii,Dihydropyrimidinuria,Dpd Deficiency,Dpyd Deficiency,Ethylmaloniadipic Aciduria,Fah,Familial Protein Intolerance,Familial Pyrimidinuria,Fatty Acid Oxidation,Fumarylacetoacetate Hydrolase,Ga2,Gammglutamylcysteine,Gammhydroxybutyric Acidemia,Glutaric Acidemia Type 2,Glutaric Aciduria,Glutarycoa Dehydrogenase Deficiency,Glutathione,Hadh Deficiency,Hepatorenal Tyrosinosis,Hereditary Thyminuraciluria,Hhh Syndrome,Holocarboxylase Synthetase Deficiency,Hyperornithinemihyperammonemihomocitrullinemia Syndrome,Hyperphenylalaninemia,Inborn Errors Of Metabolism,Interferences,Isoleucine Degradation,Isovaleric Acidemia,Isovalerycoa Dehydrogenase Deficiency,Iva,, A Quick Guide To Metabolic Disease Testing Interpretation, Testing For Inborn Errors Of Metabolism
学科：R3 基础医学
语种：英语
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