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Disorders of Glucose Transportlucose and galactose carrier within liver, kidney and pancreatic β-cells. Patients typically present with a combination of hepatic glycogen storage and a generalized renal tubular dysfunction which includes severe glucosuria.foliage 发表于 2025-3-22 05:42:38
Book 20064th editionpensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, die- th cians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This new 4 edition has been extensively revised. An additional clini交响乐 发表于 2025-3-22 09:15:54
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reader should first refer to Chapter 1. This chapter, which includes a number of algorithms and tables, lists the clinical findings under four main headings: the neonatal period and early infancy; acute present978-3-540-28785-8aptitude 发表于 2025-3-23 08:15:14
G. Peter A. Smit,Jan Peter Rake,Hasan O. Akman,Salvatore DiMauro