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03753nam a22005415i 4500 |
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978-3-540-76698-8 |
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DE-He213 |
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20210616041237.0 |
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cr nn 008mamaa |
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100301s2008 gw | s |||| 0|eng d |
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|a 9783540766988
|9 978-3-540-76698-8
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|a 10.1007/978-3-540-76698-8
|2 doi
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|a RC627.5-632
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|a MFGM
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|a 616.39
|2 23
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| 245 |
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|a Laboratory Guide to the Methods in Biochemical Genetics
|h [electronic resource] /
|c edited by Nenad Blau, Marinus Duran, K. Michael Gibson.
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| 250 |
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|a 1st ed. 2008.
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| 264 |
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|a Berlin, Heidelberg :
|b Springer Berlin Heidelberg :
|b Imprint: Springer,
|c 2008.
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| 300 |
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|a XXVI, 860 p.
|b online resource.
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| 336 |
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|a text
|b txt
|2 rdacontent
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| 337 |
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|a computer
|b c
|2 rdamedia
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|a online resource
|b cr
|2 rdacarrier
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|a text file
|b PDF
|2 rda
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|a Laboratory Strategies in Biochemical Genetics -- Quality Control and Quality Assurance in the Biochemical Genetic Laboratory -- Simple Metabolic Screening Tests -- Lactate, Pyruvate, Acetoacetate and 3-Hydroxybutyrate -- Amino Acids -- Homocysteine, S-adenosylmethionine and S-adenosylhomocysteine -- GABA, Homocarnosine, and ?-Alanine -- Pipecolic Acid -- Organic Acids -- Acylcarnitines, Including In Vitro Loading Tests -- Plasmalogens and Polyunsaturated Fatty Acids -- Very-Long-Chain Fatty Acids and Phytanic Acid -- Oxalate, Glycolate, Glycerate, Sulfate, and Citrate -- Glycerol and Glycerol Phosphates -- Biotinidase -- Mitochondrial Respiratory Chain -- Mucopolysaccharides -- Oligosaccharides -- Sialic Acid -- Glycosphingolipids -- Congenital Disorders of Glycosylation -- Enzymes and Metabolites of Carbohydrate Metabolism -- Polyols -- Diagnosis of Inherited Defects of Cholesterol Biosynthesis -- Lipoproteins -- Genetic Disorders of Steroid Metabolism Diagnosed by Mass Spectrometry -- Bile Acids -- Pterins and Related Enzymes -- Biogenic Amines -- Folates -- Screening for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry -- Creatine and its Metabolites -- Porphyrins, Porphobilinogen, and ?-Aminolevulinic Acid -- Trimethylaminuria -- A Tandem Mass Spectrometry Primer for Metabolite Disease Detection -- Molecular Genetics: Mutation Analysis in the Diagnosis of Metabolic Disorders.
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| 650 |
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|a Metabolic diseases.
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| 650 |
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|a Laboratory medicine.
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| 650 |
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|a Biochemistry.
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| 650 |
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|a Human genetics.
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| 650 |
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|a Pediatrics.
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| 650 |
1 |
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|a Metabolic Diseases.
|0 https://scigraph.springernature.com/ontologies/product-market-codes/H33118
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| 650 |
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|a Laboratory Medicine.
|0 https://scigraph.springernature.com/ontologies/product-market-codes/B15007
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| 650 |
2 |
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|a Biochemistry, general.
|0 https://scigraph.springernature.com/ontologies/product-market-codes/L14005
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| 650 |
2 |
4 |
|a Human Genetics.
|0 https://scigraph.springernature.com/ontologies/product-market-codes/B12008
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| 650 |
2 |
4 |
|a Pediatrics.
|0 https://scigraph.springernature.com/ontologies/product-market-codes/H49006
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| 700 |
1 |
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|a Blau, Nenad.
|e editor.
|4 edt
|4 http://id.loc.gov/vocabulary/relators/edt
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| 700 |
1 |
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|a Duran, Marinus.
|e editor.
|4 edt
|4 http://id.loc.gov/vocabulary/relators/edt
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| 700 |
1 |
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|a Gibson, K. Michael.
|e editor.
|4 edt
|4 http://id.loc.gov/vocabulary/relators/edt
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| 710 |
2 |
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|a SpringerLink (Online service)
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| 773 |
0 |
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|t Springer Nature eBook
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| 776 |
0 |
8 |
|i Printed edition:
|z 9783540848578
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| 776 |
0 |
8 |
|i Printed edition:
|z 9783540766971
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| 856 |
4 |
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|u https://doi.org/10.1007/978-3-540-76698-8
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| 912 |
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|a ZDB-2-SME
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| 912 |
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|a ZDB-2-SXM
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| 950 |
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|a Medicine (SpringerNature-11650)
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| 950 |
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|a Medicine (R0) (SpringerNature-43714)
|
