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00000cam a2200000M 4500 |
| 001 |
EBOOKCENTRAL_on1162397044 |
| 003 |
OCoLC |
| 005 |
20240329122006.0 |
| 006 |
m o d |
| 007 |
cr |n||||||||| |
| 008 |
200704s2017 xx o 000 0 eng d |
| 040 |
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|a YDX
|b eng
|c YDX
|d EBLCP
|d N$T
|d OCLCO
|d OCLCF
|d N$T
|d OCLCO
|d OCLCQ
|d OCLCO
|d OCLCL
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| 019 |
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|a 1160995344
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| 020 |
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|a 9781138196629
|q (electronic bk.)
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| 020 |
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|a 1138196622
|q (electronic bk.)
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| 020 |
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|z 9781138196599
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| 020 |
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|z 1138196592
|
| 035 |
|
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|a (OCoLC)1162397044
|z (OCoLC)1160995344
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| 050 |
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4 |
|a RJ390
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| 082 |
0 |
4 |
|a 616.3/9
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| 049 |
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|a UAMI
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| 245 |
0 |
0 |
|a Atlas of Inherited Metabolic Diseases
|h [electronic resource]
|b With Digital Download.
|
| 260 |
|
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|b CRC Pr I Llc
|c 2017.
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| 300 |
|
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|a 1 online resource
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| 505 |
0 |
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|a Cover -- Half Title -- Title Page -- Copyright Page -- Contents -- Preface by William L. Nyhan -- Preface by Georg F. Hoffmann -- Contributors -- Part 1: Organic acidemias -- 1. Introduction to the organic acidemias -- 2. Propionic acidemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 3. Methylmalonic acidemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 4. Cobalamin C, D, F, G diseases -- methylmalonic aciduria and variable homocystinuria -- Introduction -- Clinical abnormalities
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| 505 |
8 |
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|a Genetics and pathogenesis -- Treatment -- References -- 5. The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase (ACSF3) -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 6. Multiple carboxylase deficiency/holocarboxylase synthetase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 7. Multiple carboxylase deficiency/biotinidase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 8. Isovaleric acidemia
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| 505 |
8 |
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|a Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 9. Glutaric aciduria (type I) -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 10. 3-MethylcrotonylCoA carboxylase deficiency/3-methylcrotonylglycinuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 11. D-2-hydroxyglutaric (DL-2-hydroxyglutaric) aciduria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 12. L-2-hydroxyglutaric aciduria
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| 505 |
8 |
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|a Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 13. 4-Hydroxybutyric aciduria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- Part 2: Disorders of amino acid metabolism -- 14. Alkaptonuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 15. Phenylketonuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Diagnosis -- Treatment -- Maternal PKU -- References
|
| 505 |
8 |
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|a 16. Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Diagnosis -- Treatment -- References -- 17. Biogenic amines -- Aromatic L-amino acid decarboxylase deficiency -- Introduction -- Clinical abnormalities -- Psychiatric disorders in carriers -- Genetics and pathogenesis -- Treatment -- Tyrosine hydroxylase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- Dopamine transporter deficiency syndrome -- Introduction -- Clinical abnormalities
|
| 590 |
|
|
|a ProQuest Ebook Central
|b Ebook Central Academic Complete
|
| 650 |
|
0 |
|a Metabolism
|x Disorders
|v Atlases.
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| 650 |
|
0 |
|a Metabolism, Inborn errors of
|v Atlases.
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| 650 |
|
0 |
|a Metabolic disorders in children
|v Atlases.
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| 650 |
|
6 |
|a Troubles du métabolisme
|v Atlas.
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| 650 |
|
6 |
|a Maladies métaboliques congénitales
|v Atlas.
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| 650 |
|
6 |
|a Troubles du métabolisme chez l'enfant
|v Atlas.
|
| 650 |
|
7 |
|a Metabolic disorders in children
|2 fast
|
| 650 |
|
7 |
|a Metabolism
|x Disorders
|2 fast
|
| 650 |
|
7 |
|a Metabolism, Inborn errors of
|2 fast
|
| 655 |
|
7 |
|a Scientific atlases
|2 fast
|
| 720 |
|
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|a Nyhan, William L.
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| 720 |
|
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|a Hoffman, Georg F.
|
| 720 |
|
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|a Barshop, Bruce A.
|
| 758 |
|
|
|i has work:
|a Atlas of inherited metabolic diseases (Text)
|1 https://id.oclc.org/worldcat/entity/E39PCGvR4RFHb4gVxF8k4vRCXq
|4 https://id.oclc.org/worldcat/ontology/hasWork
|
| 776 |
0 |
8 |
|i Print version:
|z 9781138196599
|z 1138196592
|w (OCoLC)982653285
|
| 856 |
4 |
0 |
|u https://ebookcentral.uam.elogim.com/lib/uam-ebooks/detail.action?docID=6236323
|z Texto completo
|
| 938 |
|
|
|a YBP Library Services
|b YANK
|n 16827042
|
| 938 |
|
|
|a YBP Library Services
|b YANK
|n 301367580
|
| 938 |
|
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|a ProQuest Ebook Central
|b EBLB
|n EBL6236323
|
| 994 |
|
|
|a 92
|b IZTAP
|
