Coverart for item
The Resource Physician's guide to the treatment and follow-up of metabolic diseases, Nenad Blau ... [et al.] (eds.) ; foreword by C.R. Scriver, (electronic book)

Physician's guide to the treatment and follow-up of metabolic diseases, Nenad Blau ... [et al.] (eds.) ; foreword by C.R. Scriver, (electronic book)

Label
Physician's guide to the treatment and follow-up of metabolic diseases
Title
Physician's guide to the treatment and follow-up of metabolic diseases
Statement of responsibility
Nenad Blau ... [et al.] (eds.) ; foreword by C.R. Scriver
Contributor
Subject
Language
eng
Member of
Cataloging source
GW5XE
http://bibfra.me/vocab/lite/collectionName
Physician's guide to the laboratory diagnosis of metabolic disease
Dewey number
616.39
Illustrations
illustrations
Index
index present
LC call number
RC627.54
LC item number
.P59 2006eb
Literary form
non fiction
Nature of contents
  • dictionaries
  • bibliography
http://library.link/vocab/relatedWorkOrContributorDate
1946-
http://library.link/vocab/relatedWorkOrContributorName
Blau, N.
http://library.link/vocab/subjectName
  • Metabolism
  • Metabolic Diseases
  • Metabolism, Inborn Errors
  • Laboratory Techniques and Procedures
Label
Physician's guide to the treatment and follow-up of metabolic diseases, Nenad Blau ... [et al.] (eds.) ; foreword by C.R. Scriver, (electronic book)
Instantiates
Publication
Note
Companion v. of: The physician's guide to the laboratory diagnosis of metabolic disease
Bibliography note
Includes bibliographical references and indexes
Color
multicolored
Contents
Part One: Initial Approaches. Emergency management of metabolic diseases / Georg F. Hoffmann, Joe T.R. Clarke, James V. Leonard ; The role of communication in the treatment of inborn metabolic diseases / Peter Burgard, UdoWendel -- Part Two: Approach to Treatment. Disorders of phenylalanine and tetrahydrobiopterin metabolism / Nenad Blau, Peter Burgard ; Disorders of neurotransmission / Georg F. Hoffmann, Robert Surtees ; Disorders of GABA, glycine, serine, and proline / Jaak Jaeken, Tom J. de Koning ; Disorders of tyrosine degradation / Elisabeth Holme ; Disorders of histidine metabolism / Nenad Blau ; Disorders of leucine metabolism / Rebecca S. Wappner, K. Michael Gibson ; Disorders of valine-isoleucine metabolism / Bruce A. Barshop ; Various organic acidurias / Alberto Burlina, JohnWalter ; Disorders of the y-glutamyl cycle / Ellinor Ristoff, Agne Larsson ; Disorders of sulfur amino acid metabolism / Bridget Wilcken ; Inherited hyperammonaemias / James V. Leonard ; Disorders of ornithine, lysine, and tryptophan / Georg F. Hoffmann, Andreas Schulze ; Defective transcellular transport of amino acids / Susanne Schweitzer-Krantz ; Disorders of mitochondrial fatty acid oxidation and ketone body metabolism / Hélène Ogier de Baulny, Andrea Superti-Furga ; Disorders of carbohydrate and glycogen metabolism / Jan Peter Rake, Gepke Visser, G. Peter A. Smit ; Disorders of glucose transport / René Santer, Jörg Klepper ; Disorders of glycerol metabolism / Katrina M. Dipple, Edward R.B. McCabe ; The mucopolysaccharidoses / J. Edward Wraith, Joe T.R. Clarke ; Oligosaccharidoses and related disorders / Generoso Andria, Giancarlo Parenti ; Congenital disorders of glycosylation / Jaak Jaeken ; Cystinosis / Erik Harms ; Other storage disorders / Joe T.R. Clarke ; Inborn errors of purine and pyrimidine metabolism / Albert H. van Gennip, Jörgen Bierau, William L. Nyhan ; Disorders of creatine metabolism / Sylvia Stöckler-Ipsiroglu, Roberta Battini, Ton DeGrauw, Andreas Schulze ; Peroxisomal disorders / Hanna Mandel ; Hyperoxaluria / Bernd Hoppe, Ernst Leumann ; Mitochondrial energy metabolism / Carolien Boelen, Jan Smeitink ; Genetic dyslipoproteinemias / Serena Tonstad, Brian McCrindle ; Disorders of steroid synthesis and metabolism / Anna Biason-Lauber ; Inborn errors of cholesterol biosynthesis / Dorothea Haas, Richard I. Kelley ; The porphyrias / Elisabeth Minder, Xiaoye Schneider-Yin ; Disorders of bile acid synthesis / Peter T. Clayton ; Disorders of copper, zinc, and iron metabolism / Eve A. Roberts ; Leukotrienes / Ertan Mayatepek ; Hyperinsulinism of infancy / Khalid Hussain ; Other metabolic disorders / Georg F. Hoffmann, Nenad Blau
Control code
SPR262811373
Dimensions
unknown
Extent
1 online resource (xviii, 415 p.)
Form of item
online
Isbn
9783540289623
Other physical details
ill.
Specific material designation
remote
Label
Physician's guide to the treatment and follow-up of metabolic diseases, Nenad Blau ... [et al.] (eds.) ; foreword by C.R. Scriver, (electronic book)
Publication
Note
Companion v. of: The physician's guide to the laboratory diagnosis of metabolic disease
Bibliography note
Includes bibliographical references and indexes
Color
multicolored
Contents
Part One: Initial Approaches. Emergency management of metabolic diseases / Georg F. Hoffmann, Joe T.R. Clarke, James V. Leonard ; The role of communication in the treatment of inborn metabolic diseases / Peter Burgard, UdoWendel -- Part Two: Approach to Treatment. Disorders of phenylalanine and tetrahydrobiopterin metabolism / Nenad Blau, Peter Burgard ; Disorders of neurotransmission / Georg F. Hoffmann, Robert Surtees ; Disorders of GABA, glycine, serine, and proline / Jaak Jaeken, Tom J. de Koning ; Disorders of tyrosine degradation / Elisabeth Holme ; Disorders of histidine metabolism / Nenad Blau ; Disorders of leucine metabolism / Rebecca S. Wappner, K. Michael Gibson ; Disorders of valine-isoleucine metabolism / Bruce A. Barshop ; Various organic acidurias / Alberto Burlina, JohnWalter ; Disorders of the y-glutamyl cycle / Ellinor Ristoff, Agne Larsson ; Disorders of sulfur amino acid metabolism / Bridget Wilcken ; Inherited hyperammonaemias / James V. Leonard ; Disorders of ornithine, lysine, and tryptophan / Georg F. Hoffmann, Andreas Schulze ; Defective transcellular transport of amino acids / Susanne Schweitzer-Krantz ; Disorders of mitochondrial fatty acid oxidation and ketone body metabolism / Hélène Ogier de Baulny, Andrea Superti-Furga ; Disorders of carbohydrate and glycogen metabolism / Jan Peter Rake, Gepke Visser, G. Peter A. Smit ; Disorders of glucose transport / René Santer, Jörg Klepper ; Disorders of glycerol metabolism / Katrina M. Dipple, Edward R.B. McCabe ; The mucopolysaccharidoses / J. Edward Wraith, Joe T.R. Clarke ; Oligosaccharidoses and related disorders / Generoso Andria, Giancarlo Parenti ; Congenital disorders of glycosylation / Jaak Jaeken ; Cystinosis / Erik Harms ; Other storage disorders / Joe T.R. Clarke ; Inborn errors of purine and pyrimidine metabolism / Albert H. van Gennip, Jörgen Bierau, William L. Nyhan ; Disorders of creatine metabolism / Sylvia Stöckler-Ipsiroglu, Roberta Battini, Ton DeGrauw, Andreas Schulze ; Peroxisomal disorders / Hanna Mandel ; Hyperoxaluria / Bernd Hoppe, Ernst Leumann ; Mitochondrial energy metabolism / Carolien Boelen, Jan Smeitink ; Genetic dyslipoproteinemias / Serena Tonstad, Brian McCrindle ; Disorders of steroid synthesis and metabolism / Anna Biason-Lauber ; Inborn errors of cholesterol biosynthesis / Dorothea Haas, Richard I. Kelley ; The porphyrias / Elisabeth Minder, Xiaoye Schneider-Yin ; Disorders of bile acid synthesis / Peter T. Clayton ; Disorders of copper, zinc, and iron metabolism / Eve A. Roberts ; Leukotrienes / Ertan Mayatepek ; Hyperinsulinism of infancy / Khalid Hussain ; Other metabolic disorders / Georg F. Hoffmann, Nenad Blau
Control code
SPR262811373
Dimensions
unknown
Extent
1 online resource (xviii, 415 p.)
Form of item
online
Isbn
9783540289623
Other physical details
ill.
Specific material designation
remote

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