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Genetic and metabolic disease in pediatrics /
Genetic and Metabolic Disease in Pediatrics.
| Clasificación: | Libro Electrónico |
|---|---|
| Otros Autores: | , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
London ; Boston :
Butterworths,
1985.
|
| Colección: | Butterworths international medical reviews. Pediatrics.
|
| Temas: | |
| Acceso en línea: | Texto completo |
MARC
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| 003 | OCoLC | ||
| 005 | 20231117032937.0 | ||
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| 008 | 100321s1985 enka ob 001 0 eng d | ||
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| 020 | |a 1483161013 |q (electronic bk.) | ||
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| 020 | |z 9780407023123 | ||
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| 060 | 4 | |a WD 200 |b G326 1985 | |
| 072 | 7 | |a MED |x 033000 |2 bisacsh | |
| 082 | 0 | 4 | |a 618.92/39042 |2 19 |
| 245 | 0 | 0 | |a Genetic and metabolic disease in pediatrics / |c edited by June K. Lloyd and Charles R. Scriver. |
| 260 | |a London ; |a Boston : |b Butterworths, |c 1985. | ||
| 300 | |a 1 online resource (324 pages) : |b illustrations | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 490 | 1 | |a Butterworths international medical reviews. Pediatrics, |x 0260-0161 | |
| 504 | |a Includes bibliographical references and index. | ||
| 506 | |3 Use copy |f Restrictions unspecified |2 star |5 MiAaHDL | ||
| 533 | |a Electronic reproduction. |b [Place of publication not identified] : |c HathiTrust Digital Library, |d 2010. |5 MiAaHDL | ||
| 538 | |a Master and use copy. Digital master created according to Benchmark for Faithful Digital Reproductions of Monographs and Serials, Version 1. Digital Library Federation, December 2002. |u http://purl.oclc.org/DLF/benchrepro0212 |5 MiAaHDL | ||
| 583 | 1 | |a digitized |c 2010 |h HathiTrust Digital Library |l committed to preserve |2 pda |5 MiAaHDL | |
| 588 | 0 | |a Print version record. | |
| 505 | 0 | |a Front Cover; Genetic and Metabolic Disease in Pediatrics; Copyright Page; Preface; Contributors; Table of Contents; Chapter 1. Genetic causes of deviant metabolism. What do we know? What can we do?; ILLUSTRATIONS OF THEMES; References; Chapter 2. Genes; INTRODUCTION; THE STRUCTURE AND FUNCTION OF GENES; VARIATION IN THE WAY GENES DETERMINE THE STRUCTURE OF FUNCTIONAL PROTEINS; MUTATIONS; GENETIC HETEROGENEITY IN INHERITED DISEASE; DIRECT ANALYSIS OF DNA IN GENETIC PREDICTION; Acknowledgements; References; Chapter 3. The human gene map; INTRODUCTION; HISTORY; METHODS OF GENE MAPPING | |
| 505 | 8 | |a HUMAN CHROMOSOME FRAGILE SITESGENE MAPPING IN HUMAN CANCER; CLINICAL HUMAN GENE MAP; USEFUL CLINICAL MAPPING RELATIONSHIPS; References; Chapter 4. The molecular basis of clinical heterogeneity in osteogenesis imperfecta: Mutations in type I collagen genes have different effects on collagen processing; CLINICAL HETEROGENEITY OF OSTEOGENESIS IMPERFECTA; COLLAGEN PROTEIN STRUCTURE, COLLAGEN FAMILIES AND GENE STRUCTURE; COLLAGEN BIOSYNTHESIS (Figure 4.4); IDENTIFICATION OF MUTATIONS THAT AFFECT COLLAGEN METABOLISM AND STRUCTURE | |
| 505 | 8 | |a DIAGNOSIS OF INBORN ERRORS LEADING TO LACTICACIDEMIACONCLUSION; References; Chapter 7. Inborn errors of urea synthesis; INTRODUCTION; UREA SYNTHESIS; INBORN ERRORS OF UREAGENESIS; MANAGEMENT OF PARTIAL ENZYME DEFICIENCIES; GENETICS; MEASUREMENT OF PLASMA AMMONIUM AND PLASMA AMINO ACID LEVELS; Acknowledgements; Abbreviations; References; Chapter 8. The hyperphenylalaninaemias; INTRODUCTION; BIOCHEMICAL BACKGROUND; CLINICAL ASPECTS OF INHERITED DISORDERS; Abbreviations; References; Chapter 9. The hyperlipidaemias; PLASMA LIPIDS AND LIPOPROTEINS; HYPERLIPIDAEMIA AND HYPERLIPOPROTEINAEMIA | |
| 520 | |a Genetic and Metabolic Disease in Pediatrics. | ||
| 546 | |a English. | ||
| 650 | 0 | |a Metabolic disorders in children. | |
| 650 | 0 | |a Metabolism, Inborn errors of. | |
| 650 | 0 | |a Metabolism |x Disorders. | |
| 650 | 0 | |a Children. | |
| 650 | 0 | |a Infants. | |
| 650 | 2 | |a Metabolic Diseases |x genetics |0 (DNLM)D008659Q000235 | |
| 650 | 2 | |a Metabolic Diseases |0 (DNLM)D008659 | |
| 650 | 2 | |a Metabolism, Inborn Errors |0 (DNLM)D008661 | |
| 650 | 2 | 2 | |a Child |0 (DNLM)D002648 |
| 650 | 2 | 2 | |a Infant |0 (DNLM)D007223 |
| 650 | 6 | |a Troubles du m�etabolisme chez l'enfant. |0 (CaQQLa)201-0035068 | |
| 650 | 6 | |a Maladies m�etaboliques cong�enitales. |0 (CaQQLa)201-0000243 | |
| 650 | 6 | |a Troubles du m�etabolisme. |0 (CaQQLa)201-0061163 | |
| 650 | 6 | |a Enfants. |0 (CaQQLa)201-0069699 | |
| 650 | 6 | |a Nourrissons. |0 (CaQQLa)201-0064900 | |
| 650 | 7 | |a children (people by age group) |2 aat |0 (CStmoGRI)aat300025945 | |
| 650 | 7 | |a infants. |2 aat |0 (CStmoGRI)aat300189561 | |
| 650 | 7 | |a MEDICAL |x Gynecology & Obstetrics. |2 bisacsh | |
| 650 | 7 | |a Metabolism |x Disorders |2 fast |0 (OCoLC)fst01017476 | |
| 650 | 7 | |a Infants |2 fast |0 (OCoLC)fst00972103 | |
| 650 | 7 | |a Children |2 fast |0 (OCoLC)fst00854835 | |
| 650 | 7 | |a Metabolic disorders in children |2 fast |0 (OCoLC)fst01017469 | |
| 650 | 7 | |a Metabolism, Inborn errors of |2 fast |0 (OCoLC)fst01017496 | |
| 650 | 1 | 7 | |a Stofwisselingsziekten. |2 gtt |
| 650 | 1 | 7 | |a Kinderen. |2 gtt |
| 653 | |a Children |a Genetic metabolic disorders. | ||
| 700 | 1 | |a Lloyd, June K. |q (June Kathleen) | |
| 700 | 1 | |a Scriver, Charles R. | |
| 776 | 0 | 8 | |i Print version: |t Genetic and metabolic disease in pediatrics. |d London ; Boston : Butterworths, 1985 |w (OCoLC)19780287 |
| 830 | 0 | |a Butterworths international medical reviews. Pediatrics. | |
| 856 | 4 | 0 | |u https://sciencedirect.uam.elogim.com/science/book/9780407023123 |z Texto completo |