Hla461 发表于 2025-3-23 12:44:11
Linda J. De Meirleir,Rudy Van Coster,Willy Lissens巨大没有 发表于 2025-3-23 14:17:35
http://reply.papertrans.cn/47/4632/463192/463192_12.pngLicentious 发表于 2025-3-23 21:37:25
http://reply.papertrans.cn/47/4632/463192/463192_13.png鸣叫 发表于 2025-3-24 00:07:45
Disorders of the Pentose Phosphate Pathway, affects the related glucuronic acid pathway. Whereas the pentose phosphate pathway involves D stereoisomers, glucuronic acid gives rise to L-xylulose which is subsequently converted into xylitol and D-xylulose. Affected individuals excrete large amounts of L-xylulose in urine. This is a benign dis开玩笑 发表于 2025-3-24 03:24:26
http://reply.papertrans.cn/47/4632/463192/463192_15.pngIsthmus 发表于 2025-3-24 10:11:50
http://reply.papertrans.cn/47/4632/463192/463192_16.pngNmda-Receptor 发表于 2025-3-24 10:49:55
Creatine Deficiency Syndromesmptoms in GAMT and AGAT deficiency. Reduction of GAA by additional dietary restriction of arginine (and supplemen tation of ornithine) appears to be of additional benefit for the long-term outcome of GAMT deficient patients. For SLC6A8 deficient patients no effective treatment is currently availablecraven 发表于 2025-3-24 16:18:33
A Clinical Approach to Inherited Metabolic Diseasesantedate 发表于 2025-3-24 19:58:49
http://reply.papertrans.cn/47/4632/463192/463192_19.pngPOLYP 发表于 2025-3-25 01:39:38
Book 20064th editionrevious edition, the book can be used in two main ways. If the diagnosis is not known the 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 present