Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of patients with inherited metabolic diseases. The clinical and laboratory data characteristic of the ever-growing number of rare metabolic conditions can be bewilder...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
Άλλοι συγγραφείς: Blau, Nenad (Επιμελητής έκδοσης), Duran, Marinus (Επιμελητής έκδοσης), Gibson, K Michael (Επιμελητής έκδοσης), Dionisi Vici, Carlo (Επιμελητής έκδοσης)
Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
Γλώσσα:English
Έκδοση: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2014.
Θέματα:
Διαθέσιμο Online:Full Text via HEAL-Link
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245 1 0 |a Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases  |h [electronic resource] /  |c edited by Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici. 
264 1 |a Berlin, Heidelberg :  |b Springer Berlin Heidelberg :  |b Imprint: Springer,  |c 2014. 
300 |a XLV, 867 p. 163 illus., 82 illus. in color.  |b online resource. 
336 |a text  |b txt  |2 rdacontent 
337 |a computer  |b c  |2 rdamedia 
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505 0 |a Introductory Chapters -- Amino acids -- Organic acids -- Vitamins and neurotransmitter -- Energy metabolism -- Organelles -- Selected disorder -- Biochemical phenotypes of questionable clinical significance -- Profiles. 
520 |a This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of patients with inherited metabolic diseases. The clinical and laboratory data characteristic of the ever-growing number of rare metabolic conditions can be bewildering for the general clinician. Reference laboratory data are scattered and clinical descriptions maybe obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to disorder category.  Relevant clinical findings are provided and pathological values for diagnostic metabolites are provided. Signs and symptoms are provided for each disorder from birth through adulthood. In addition, the role of biochemical genetic testing is outlined. Treatment protocols and experimental therapies are fully described, with guidance on follow-up and monitoring. The authors are acknowledged experts from across the world, and the book will be invaluable to all who deal with patients with inherited metabolic diseases, including pediatricians, internists, neurologists, and clinical geneticists, as well as clinical and biochemical geneticists. 
650 0 |a Medicine. 
650 0 |a Human genetics. 
650 0 |a Laboratory medicine. 
650 0 |a Metabolic diseases. 
650 0 |a Medical biochemistry. 
650 0 |a Pediatrics. 
650 1 4 |a Medicine & Public Health. 
650 2 4 |a Metabolic Diseases. 
650 2 4 |a Medical Biochemistry. 
650 2 4 |a Pediatrics. 
650 2 4 |a Laboratory Medicine. 
650 2 4 |a Human Genetics. 
700 1 |a Blau, Nenad.  |e editor. 
700 1 |a Duran, Marinus.  |e editor. 
700 1 |a Gibson, K Michael.  |e editor. 
700 1 |a Dionisi Vici, Carlo.  |e editor. 
710 2 |a SpringerLink (Online service) 
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776 0 8 |i Printed edition:  |z 9783642403361 
856 4 0 |u http://dx.doi.org/10.1007/978-3-642-40337-8  |z Full Text via HEAL-Link 
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950 |a Medicine (Springer-11650)