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在“Elsevier电子期刊”中，命中：181条，耗时：0.0339555 秒

在所有数据库中总计命中：268条

1.Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations

关键词：Oxysterols ; Niemann-Pick ; Liquid chromatography-tandem&ndash ; mass spectrometry ; Variant biochemical phenotype

刊名：Clinica Chimica Acta

出版年：2016

2.A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9

作者：Masatsugu Masuda^a ; ^b ; ^{masoeur13@mac.com" class="auth_mail" title="E-mail the corresponding author} ; Hideki Mutai^a ; ^{mutaihideki@kankakuki.go.jp" class="auth_mail" title="E-mail the corresponding author} ; Yukiko Arimoto^c ; ^{y.armt1@pref.chiba.lg.jp" class="auth_mail" title="E-mail the corresponding author} ; Atsuko Nakano^c ; ^{a.nkn@pref.chiba.lg.jp" class="auth_mail" title="E-mail the corresponding author} ; Tatsuo Matsunaga^a ; ^d ; ^{matsunagatatsuo@kankakuki.go.jp" class="auth_mail" title="E-mail the corresponding author}

关键词：COCH ; DFNA9 ; Frameshift variant ; Haploinsufficiency ; Hearing loss

刊名：Biochemical and Biophysical Research Communications

出版年：2016

3.Detailed functional analysis of two clinical glucose-6-phosphate dehydrogenase (G6PD) variants, G6PD_Viangchan and G6PD_Viangchan ₊ _Mahidol: Decreased stability and catalytic efficiency contribute to the clinical phenotype

作者：Usa Boonyuen^a ; ^{usa.boo@mahidol.edu" class="auth_mail" title="E-mail the corresponding author} ; Kamonwan Chamchoy^a ; ^{kamonwan.cheek@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Thitiluck Swangsri^a ; ^{thitiluck.swa@mahidol.ac.th" class="auth_mail" title="E-mail the corresponding author} ; Naowarat Saralamba^a ; ^b ; ^{naowarat.sar@mahidol.ac.th" class="auth_mail" title="E-mail the corresponding author} ; Nicholas P.J. Day^b ; ^c ; ^{nickd@tropmedres.ac" class="auth_mail" title="E-mail the corresponding author} ; Mallika Imwong^a ; ^{noi@tropmedres.ac" class="auth_mail" title="E-mail the corresponding author} ; ^{mallika.imw@mahidol.ac.th" class="auth_mail" title="E-mail the corresponding author}

关键词：Glucose-6-phosphate dehydrogenase ; G6PD deficiency ; Variants ; Steady state kinetics ; Thermostability

刊名：Molecular Genetics and Metabolism

出版年：2016

4.First Japanese case of infectious endocarditis due to Enterococcus faecalis small-colony variants

作者：Shinji Ogihara^a ; ^{ogihara.shi@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Ryoichi Saito^b ; Etsuko Sawabe^a ; Michio Hagihara^a ; Shuji Tohda^a

关键词：Small-colony variants ; Enterococcus faecalis ; Infectious endocarditis

刊名：Journal of Infection and Chemotherapy

出版年：2016

5.The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors

作者：Lori-Anne P. Schillaci^a ; ¹ ; Carol L. Greene^b ; Erin Strovel^b ; Jessica Rispoli-Joines^b ; Elaine Spector^c ; Michael Woontner^c ; Gunter Scharer^c ; Gregory M. Enns^d ; Renata Gallagher^e ; Arthur B. Zinn^a ; ^g ; Shawn E. McCandless^a ; ^f ; ^g ; Charles L. Hoppel^h ; ⁱ ; Stephen I. Goodman^c ; Jirair K. Bedoyan^a ; ^f ; ^g ; ¹ ; ^{jirair.bedoyan@uhhospitals.org" class="auth_mail" title="E-mail the corresponding author}

关键词：GCDH ; Glutaryl-CoA dehydrogenase ; Glutaric aciduria ; Low excretor ; Newborn screen ; Urinary acylcarnitines

刊名：Molecular Genetics and Metabolism

出版年：2016

6.Association of adenylyl cyclase 6 rs3730070 polymorphism and hemolytic level in patients with sickle cell anemia

作者：Kizzy-Clara Cita^a ; ^b ; ¹ ; Sé ; verine Ferdinand^a ; ^b ; ¹ ; Philippe Connes^a ; ^b ; ^c ; ^d ; Laura Brudey^a ; ^b ; Benoit Tressiè ; res^e ; Maryse Etienne-Julan^f ; Nathalie Lemonne^f ; Vanessa Tarer^f ; Jacques Elion^b ; ^g ; Marc Romana^a ; ^b ; ^{marc.romana@inserm.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：Sickle cell anemia ; Hemolysis ; Adenosine pathway ; Adenylyl cyclase

刊名：Blood Cells, Molecules and Diseases

出版年：2016

7.Polymorphisms in UGT1A1 Gene Predispose South Indians to Pigmentous Gallstones

作者：Vishnubhotla Venkata Ravikanth^* ; ^{ravikanth.aig@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Guduru Venkat Rao^&dagger ; ; Bale Govardhan^* ; Mitnala Sasikala^* ; Chivukula Subramanyam^* ; H.V. Vivekananda Murthy^* ; Siddapuram Siva Prasad^* ; G. Deepika^&dagger ; ; Rebala Pradeep^&dagger ; ; Duvvuru Nageshwar Reddy^&dagger ;

关键词：GSD ; gallstone disease ; ABCG ; 8 ATP-binding cassette ; sub-family G (WHITE) ; member 8 ; SNPs ; single nucleotide polymorphisms ; UGT1A1 ; UDP glucuronosyltransferase 1 family ; polypeptide A1 (UGT1A1) ; ABCG6 ; ATP-binding cassette protein subfamily G ; member 6 ; LDL ; low density lipoprotein ; HDL ; high density lipoprotein ; DNA ; deoxyribose nucleic acid ; PXR ; pregnane C receptor ; SD ; standard deviation ; OR ; odds ratio

刊名：Journal of Clinical and Experimental Hepatology

出版年：2016

8.ApoA-IMilano phospholipid complex (ETC-216) infusion in human volunteers. Insights into the phenotypic characteristics of ApoA-IMilano carriers

作者：Charles L. Bisgaier^a ; ¹ ; ^{cbisgaier@gemphire.com" class="auth_mail" title="E-mail the corresponding author} ; Rose Ackermann^a ; ² ; Thomas Rea^b ; ³ ; Wendi V. Rodrigueza^c ; ⁴ ; Daniel Hartman^d ; ⁵

关键词：ApoA-Milano ; First-in-man ; HDL therapy ; Pharmacokinetics ; Reverse cholesterol transport ; Synthetic HDL

刊名：Pharmacological Research

出版年：2016

9.Dataset for a case report of a homozygous PEX16 F332del mutation

作者：Carlos Bacino^a ; ^c ; Yu-Hsin Chao^a ; Elaine Seto^b ; ^c ; Tim Lotze^b ; ^c ; Fan Xia^a ; Richard O. Jones^d ; Ann Moser^d ; Michael F. Wangler^a ; ^c ; ^{michael.wangler@bcm.edu" class="auth_mail" title="E-mail the corresponding author}

刊名：Data in Brief

出版年：2016

10.Metabolic abnormalities in young Egyptian women with polycystic ovary syndrome and their relation to ADIPOQ gene variants and body fat phenotype

作者：Moushira Zaki^a ; ; Shams Kholoussi^b ; Somaia Ismail^c ; Haiam Abdel Raouf^b ; Iman Helwa^b ; Naglaa Hassan^a ; Eman Youness^d ; Nadia A. Mohamed^d ; Sanaa Kamal^a ; Walaa Yousef^a ; Mohamed Shaker^a ; Wafaa Ezzat^e ; Yasser A. Elhosary^e ; Omnia M. Saleh^e ; Mona El Gammal^g ; HalaT. El-Bassyouni^f ; Samira Ismail^f ; Mamdouh Bibars^g ; Osama Azmy^g

关键词：PCOS ; Polycystic Ovarian Syndrome ; BMI ; Body Mass Index ; BP ; Blood Pressure ; MUAC ; Mid Upper Arm Circumference ; WC ; Waist Circumference ; HC ; Hip Circumference ; WHR ; Waist to Hip Ratio ; SF ; Skin Fold ; HOMA-IR ; Homeostatic Model Assessment for Insulin Resistance ; HDL-C ; High Density Lipoprotein Cholesterol ; LDL-C ; Low Density Lipoprotein Cholesterol ; TG ; Triglycerides

刊名：Egyptian Journal of Medical Human Genetics

出版年：2015

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