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|a 9783642281297 (electronic bk.)
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|a 364228129X (electronic bk.)
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|a (OCoLC)793813695
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|2 23
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|a RC627.8
|b .J56 2012
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| 245 |
0 |
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|a JIMD reports-- Case and research reports.
|n 2012/3 /
|c SSIEM.
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| 260 |
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|a Berlin ;
|a New York :
|b Springer,
|c c2012.
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| 300 |
|
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|a 1 online resource (vii, 129 p.) :
|b ill. (some col.)
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| 336 |
|
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|a text
|b txt
|2 rdacontent
|0 http://id.loc.gov/vocabulary/contentTypes/txt
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|a computer
|b c
|2 rdamedia
|0 http://id.loc.gov/vocabulary/mediaTypes/c
|
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|a online resource
|b cr
|2 rdacarrier
|0 http://id.loc.gov/vocabulary/carriers/cr
|
| 490 |
0 |
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|a JIMD Reports,
|x 2192-8304 ;
|v 6
|
| 504 |
|
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|a Includes bibliographical references.
|
| 505 |
0 |
0 |
|t Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted DNA Mutation Analysis /
|r Sachiko Nakagawa, Jie Zhan, Wei Sun, Jose Carlos Ferreira and Steven Keiles, et al. --
|t A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency /
|r Monique Fontaine, Anne-Frédérique Dessein, Claire Douillard, Dries Dobbelaere and Michèle Brivet, et al. --
|t Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome /
|r Jessica A. Scott Schwoerer, Lisa Obernolte, Sandra Van Calcar, Susan Heighway and Heather Bankowski, et al. --
|t Dihydropyrimidinase Deficiency: The First Feline Case of Dihydropyrimidinuria with Clinical and Molecular Findings /
|r Hye-Sook Chang, Takako Shibata, Satoshi Arai, Chunhua Zhang and Akira Yabuki, et al. --
|t Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection /
|r Laura E. Laróvere, Silene M. Silvera Ruiz, Celia J. Angaroni and Raquel Dodelson de Kremer --
|t Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance /
|r Lorenzo Ferri, Anna Caciotti, Catia Cavicchi, Miriam Rigoldi and Rossella Parini, et al.
|
| 505 |
0 |
0 |
|t Cross Correction Following Haemopoietic Stem Cell Transplant for Purine Nucleoside Phosphorylase Deficiency: Engrafted Donor-Derived White Blood Cells Provide Enzyme to Residual Enzyme-Deficient Recipient Cells /
|r Vikramajit Singh --
|t Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations /
|r Andrea Mignarri, Claudia Vinciguerra, Antonio Giorgio, Sacha Ferdinandusse and Hans Waterham, et al. --
|t D-Serine Influences Synaptogenesis in a P19 Cell Model /
|r Sabine A. Fuchs, Martin W. Roeleveld, Leo W. J. Klomp, Ruud Berger and Tom J. de Koning --
|t Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients /
|r Mei-Ying Liu, Tze-Tze Liu, Yang-Ling Yang, Ying-Chen Chang and Ya-Ling Fan, et al. --
|t Cardiac Pathology in Glycogen Storage Disease Type III /
|r S. L. Austin, A. D. Proia, M. J. Spencer-Manzon, J. Butany and S. B. Wechsler, et al. --
|t Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides /
|r E Martín-Hernández, P Quijada-Fraile, L Oliveros-Leal, MT García-Silva and C Pérez-Cerdá, et al. --
|t Newborn Screening for Inborn Errors of Metabolism in Mainland China: 30 Years of Experience /
|r Xiao-Tong Shi, Juan Cai, Yuan-Yu Wang, Wen-Jun Tu and Wei-Peng Wang, et al.
|
| 505 |
0 |
0 |
|t Problems of Adults with a Mitochondrial Disease - The Patients' Perspective: Focus on Loss /
|r Greet Noorda, Theo van Achterberg, Truus van der Hooft, Jan Smeitink and Lisette Schoonhoven, et al. --
|t The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy /
|r Monique G. M. de Sain-van der Velden, Piero Rinaldo, Bert Elvers, Mick Henderson and John H Walter, et al. --
|t Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease /
|r R. Cheung, D. O. Sillence and M. C. Tchan --
|t Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands /
|r E Martins, A Marcão, A Bandeira, H Fonseca and C Nogueira, et al. --
|t Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening /
|r U. Spiekerkoetter, M. Mueller, M. Sturm, M. Hofmann and D. T. Schneider --
|t Newborn Screening for Lysosomal Storage Disorders in Hungary /
|r Judit Wittmann, Eszter Karg, Sàndor Turi, Elisa Legnini and Gyula Wittmann, et al. --
|t Successful Weight Loss in Two Adult Patients Diagnosed with Late-Onset Long-Chain Fatty Acid Oxidation Defect /
|r H. Zweers, C. Timmer, E. Rasmussen, M. den Heijer and H. de Valk.
|
| 650 |
|
0 |
|a Metabolism, Inborn errors of.
|0 http://id.loc.gov/authorities/subjects/sh85084017
|
| 653 |
|
4 |
|a Medicine.
|
| 653 |
|
4 |
|a Human genetics.
|
| 653 |
|
4 |
|a Human physiology.
|
| 653 |
|
4 |
|a Metabolic diseases.
|
| 653 |
|
4 |
|a Pediatrics.
|
| 653 |
|
4 |
|a Biomedicine.
|
| 655 |
|
4 |
|a Electronic books.
|
| 650 |
|
7 |
|a Metabolism, Inborn errors of.
|2 fast
|0 http://id.worldcat.org/fast/fst01017496
|
| 710 |
2 |
|
|a Society for the Study of Inborn Errors of Metabolism.
|0 http://id.loc.gov/authorities/names/n79089124
|1 http://viaf.org/viaf/155327354
|
| 856 |
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