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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