Coverart for item
The Resource Metabolic diseases : foundations of clinical management, genetics, and pathology, Enid Gilbert-Barness, Lewis A. Barness ; with foreword by John M. Opitz

Metabolic diseases : foundations of clinical management, genetics, and pathology, Enid Gilbert-Barness, Lewis A. Barness ; with foreword by John M. Opitz

Label
Metabolic diseases : foundations of clinical management, genetics, and pathology
Title
Metabolic diseases
Title remainder
foundations of clinical management, genetics, and pathology
Statement of responsibility
Enid Gilbert-Barness, Lewis A. Barness ; with foreword by John M. Opitz
Creator
Contributor
Subject
Language
eng
Cataloging source
NLM
http://library.link/vocab/creatorDate
1927-
http://library.link/vocab/creatorName
Gilbert-Barness, Enid
Illustrations
illustrations
Index
index present
Literary form
non fiction
Nature of contents
bibliography
NLM call number
WD 200
NLM item number
.G464m 2000
http://library.link/vocab/relatedWorkOrContributorName
Barness, Lewis A
http://library.link/vocab/subjectName
  • Metabolic Diseases
  • Metabolic Diseases
  • Metabolic Diseases
Label
Metabolic diseases : foundations of clinical management, genetics, and pathology, Enid Gilbert-Barness, Lewis A. Barness ; with foreword by John M. Opitz
Instantiates
Publication
Bibliography note
Includes bibliographical references and index
Carrier category
volume
Carrier category code
  • nc
Carrier MARC source
rdacarrier
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
v. 1. Approach to diagnosis of metabolic diseases -- Prenatal diagnosis and newborn screening -- Disorders of amino acid metabolism -- Disorders of branched-chain amino acid metabolism -- Defects of the urea cycle -- Fatty acid Ý-oxidation defects -- Mitochondrial disorders -- Disorders of carbohydrate and glycoprotein metabolism -- Mucopolysaccharidoses -- Mucolipidoses -- Disorders of lipid metabolism -- Lysosomal storage diseases -- Disorders of nucleotide metabolism: purines and pyrimidines -- Peroxisomal disorders -- v. 2. Disorders of metal metabolism -- Neuronal ceroid lipofuscinosis -- Cystic fibrosis -- Disorders of porphyrin metabolism -- Disorders of collagen metabolism -- Disorders of bilirubin metabolism -- Metabolic disorders of endocrine glands -- Metabolic cardiomyopathies -- Molecular disorders of the red blood cell and disorders of coagulation -- Genetic disorders of the renal tubule -- Genetic disorders of calcium metabolism -- Neuromuscular disorders -- Gene therapy -- Gene maps -- Disorders detected by the expanded supplemental newborn screening (SNS) program -- Metabolic disease autopsy -- Pregnancy and fetal outcome in maternal inborn errors of metabolism -- Nutritional aids for some metabolic diseases -- Diseases treated by umbilical cord blood transplantation -- Laboratories performing specialized studies -- Enzyme tests available from the laboratory of medical genetics, University of Alabama at Birmingham -- Clinical diagnosis and treatment guide to inborn errors of metabolism
Control code
44085594
Dimensions
28 cm
Extent
2 volumes (xix, 889, 41 pages)
Isbn
9781881299110
Lccn
00032161
Media category
unmediated
Media MARC source
rdamedia
Media type code
  • n
Other physical details
illustrations (some color)
Label
Metabolic diseases : foundations of clinical management, genetics, and pathology, Enid Gilbert-Barness, Lewis A. Barness ; with foreword by John M. Opitz
Publication
Bibliography note
Includes bibliographical references and index
Carrier category
volume
Carrier category code
  • nc
Carrier MARC source
rdacarrier
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
v. 1. Approach to diagnosis of metabolic diseases -- Prenatal diagnosis and newborn screening -- Disorders of amino acid metabolism -- Disorders of branched-chain amino acid metabolism -- Defects of the urea cycle -- Fatty acid Ý-oxidation defects -- Mitochondrial disorders -- Disorders of carbohydrate and glycoprotein metabolism -- Mucopolysaccharidoses -- Mucolipidoses -- Disorders of lipid metabolism -- Lysosomal storage diseases -- Disorders of nucleotide metabolism: purines and pyrimidines -- Peroxisomal disorders -- v. 2. Disorders of metal metabolism -- Neuronal ceroid lipofuscinosis -- Cystic fibrosis -- Disorders of porphyrin metabolism -- Disorders of collagen metabolism -- Disorders of bilirubin metabolism -- Metabolic disorders of endocrine glands -- Metabolic cardiomyopathies -- Molecular disorders of the red blood cell and disorders of coagulation -- Genetic disorders of the renal tubule -- Genetic disorders of calcium metabolism -- Neuromuscular disorders -- Gene therapy -- Gene maps -- Disorders detected by the expanded supplemental newborn screening (SNS) program -- Metabolic disease autopsy -- Pregnancy and fetal outcome in maternal inborn errors of metabolism -- Nutritional aids for some metabolic diseases -- Diseases treated by umbilical cord blood transplantation -- Laboratories performing specialized studies -- Enzyme tests available from the laboratory of medical genetics, University of Alabama at Birmingham -- Clinical diagnosis and treatment guide to inborn errors of metabolism
Control code
44085594
Dimensions
28 cm
Extent
2 volumes (xix, 889, 41 pages)
Isbn
9781881299110
Lccn
00032161
Media category
unmediated
Media MARC source
rdamedia
Media type code
  • n
Other physical details
illustrations (some color)

Library Locations

    • J. Otto Lottes Health Sciences LibraryBorrow it
      1 Hospital Dr, Columbia, MO, 65201, US
      38.939544 -92.328377
    • University of Missouri Libraries DepositoryBorrow it
      2908 Lemone Blvd, Columbia, MO, 65211, US
      38.919360 -92.291620
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