Nenad Blau & Marinus Duran 
Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases [PDF ebook] 

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This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.

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Jadual kandungan

Introductory Chapters.- Amino acids.- Organic acids.- Vitamins and neurotransmitter.- Energy metabolism.- Organelles.- Selected disorder.- Biochemical phenotypes of questionable clinical significance.- Profiles.

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Bahasa Inggeris ● Format PDF ● Halaman-halaman 867 ● ISBN 9783642403378 ● Saiz fail 17.1 MB ● Penyunting Nenad Blau & Marinus Duran ● Penerbit Springer Berlin ● Bandar raya Heidelberg ● Negara DE ● Diterbitkan 2014 ● Muat turun 24 bulan ● Mata wang EUR ● ID 5239211 ● Salin perlindungan Social DRM

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