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27篇 您的检索式：作者名="Mills PB"

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	题名	作者	年代	出处	被引量
1	Seizures and paroxysmal events:symptoms pointing to the diagnosis of pyridoxine-dependent epi- lepsy and pyridoxine phosphate oxidase deficiency 显示文摘	Schmitt B Baumgartner M Mills PB	2010	Dev Med Child Neurol2010，52，7：	1
2	Mutations in antiquitin in individuals with pyridoxine-dependent seizures显示文摘	Mills PB Struys E Jakobs C		0，，03：	1
3	Neonatal epileptic enc@a- lopathy caused by mutations in the PNPO gene encoding pyridox (am) ine 5 '-phosphate oxidase 显示文摘	Mills PB Surtees RA Champion MP	2005	Hum Mol Genet2005，14，8：	1
4	Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy(ALDH7A1 deficiency)显示文摘	Mills PB Footitt EJ Mills KA		0，，7：	1
5	Regulation of amyloid precursor protein cleavage 显示文摘	Mills J Reiner PB	1999	J Neurochem1999，72，2：	1
6	Regulation of amyloid procursor protein cleavage 显示文摘	Mills J Reiner PB	1999	Neurochem1999，72，2：	1
7	Epilepsy due to PNPO muta- tions:genotype,environment and treatment affect presentation and out- come 显示文摘	Mills PB Canmzeaux SS Footitt EJ	2014	Brain2014，137，5：	1
8	Mutations in antiquitin in individuals with pyridoxine-dependent seizures 显示文摘	Mills PB Struys E Jakobs C	2006	Nat Med2006，12，3：	1
9	Manganese and the brain 显示文摘	Tuschl K Mills PB Clayton PT	2013	IntRev Neurobiol2013，110，：	1
10	Manganese and the brain显示文摘	Tuschl K Mills PB Clayton PT	2013	Int Rev Neurobio2013，110，：	1
11	Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase 显示文摘	Mills PB Surtees RA Champion MP	2005	Hum Mol Genet2005，14，8：	1
12	Manganese and the brain显示文摘	Tuschl K Mills PB Clayton PT	2013	Int Rev Neurobiol2013，110，：	1
13	Regulation of amyloid precursor protein cleavage显示文摘	Mills J Reiner PB	1999	J Neurochem1999，72，：	1
14	Liver disease in infancy caused by oxysterol 7cL-hydroxylase deficiency: successful treatment withchenodeoxycholic acld显示文摘	Dai D Mills PB Footitt E	2014	J Inherit Metab Dis2014，37，5：	1
15	Complications associated with internal fixation of high-energy bicondlar tibial plateau fractures utilizing a two-incision technique显示文摘	David PB Nork SE Mills WJ	2004	J Orthop Trauma2004，18，10：	1
16	Liver disease in caused by oxysterol 7 alpha-hydroxylase deficiency: successful treatment with chenodeoxycholic acid 显示文摘	Dai D Mills PB Footitt E	2014	J InheritMetabDis2014，37，5：	1
17	Bile acid-CoA ligase deficiency-A new inborn error of bile acid synthesis 显示文摘	Chong CP Mills PB McClean P	2012	J Inherit Metab Dis2012，35，3：	1
18	Hepatic cirrhosis,dystonia,polycythaemia and hypermanganesaemia-a new metabolic disorder显示文摘	Tuschl K Mills PB Parsons H	2008	J Inherit Metab Dis2008，31，2：	1
19	The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type Ⅰ is not random显示文摘	Mills K Mills PB Clayton PT	2003	Glycobiology2003，13，2：	1
20	Regulation of amyloid precursor protein cleveage显示文摘	Mills J Reiner PB		0，，：	1

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