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
Resource Information
The item Metabolic diseases : foundations of clinical management, genetics, and pathology, Enid Gilbert-Barness, Lewis A. Barness ; with foreword by John M. Opitz represents a specific, individual, material embodiment of a distinct intellectual or artistic creation found in University of Missouri Libraries.This item is available to borrow from 2 library branches.
Resource Information
The item Metabolic diseases : foundations of clinical management, genetics, and pathology, Enid Gilbert-Barness, Lewis A. Barness ; with foreword by John M. Opitz represents a specific, individual, material embodiment of a distinct intellectual or artistic creation found in University of Missouri Libraries.
This item is available to borrow from 2 library branches.
- Extent
- 2 volumes (xix, 889, 41 pages)
- 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
- Isbn
- 9781881299110
- 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
- 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
- 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
- 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)
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<div class="citation" vocab="http://schema.org/"><i class="fa fa-external-link-square fa-fw"></i> Data from <span resource="http://link.library.missouri.edu/portal/Metabolic-diseases--foundations-of-clinical/0MhB-3aTILY/" typeof="Book http://bibfra.me/vocab/lite/Item"><span property="name http://bibfra.me/vocab/lite/label"><a href="http://link.library.missouri.edu/portal/Metabolic-diseases--foundations-of-clinical/0MhB-3aTILY/">Metabolic diseases : foundations of clinical management, genetics, and pathology, Enid Gilbert-Barness, Lewis A. Barness ; with foreword by John M. Opitz</a></span> - <span property="potentialAction" typeOf="OrganizeAction"><span property="agent" typeof="LibrarySystem http://library.link/vocab/LibrarySystem" resource="http://link.library.missouri.edu/"><span property="name http://bibfra.me/vocab/lite/label"><a property="url" href="http://link.library.missouri.edu/">University of Missouri Libraries</a></span></span></span></span></div>