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在“Elsevier电子期刊”中，命中：372条，耗时：小于0.01 秒

在所有数据库中总计命中：751条

1.Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

作者：Albina Nowak^a ; ^{albina.nowak@usz.ch} ; Thomas P. Mechtler^b ; ^{t.mechtler@archimedlife.com} ; Robert J. Desnick^c ; ^{robert.desnick@mssm.edu} ; David C. Kasper^b ; ^{d.kasper@archimedlife.com}

关键词：Fabry disease ; Heterozygotes ; LysoGb3 ; Biomarker ; α-galactosidase deficiency

刊名：Molecular Genetics and Metabolism

出版年：2017

2.Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency: Database Evaluation and Population Analysis

作者：Beatriz Lara^a ; ^{beat1135@gmail.com} ; ^{Beatriz.Lara@uhcw.nhs.uk} ; Ignacio Blanco^b ; Marí ; a Teresa Martí ; nez^c ; Esther Rodrí ; guez^d ; Ana Bustamante^e ; Francisco Casas^f ; Sergio Cadenas^g ; José ; M. Herná ; ndez^h ; Lourdes Lá ; zaroⁱ ; Marí ; a Torres^j ; Sergio Curi^k ; Cristina Esquinas^d ; Francisco Dasí ; ^l ; Amparo Escribano^m ; Iné ; s Herreroⁿ ; Beatriz Martí ; nez-Delgado^ñ ; ; Francisco Javier Michel^o ; Francisco Rodrí ; guez-Frí ; as^d ; Marc Miravitlles^d

关键词：Registry ; Alpha-1 antitripsin

刊名：Archivos de Bronconeumología (English Edition)

出版年：2017

3.The effect of α₁-antitrypsin deficiency combined with increased bacterial loads on chronic obstructive pulmonary disease pharmacotherapy: A prospective, parallel, controlled pilot study

作者：Marwa G. Hennawy^a ; ¹ ; Noha M. Elhosseiny^b ; ¹ ; Hussein Sultan^b ; Wael Abdelfattah^c ; Yousry Akl^d ; Nirmeen A. Sabry^a ; Ahmed S. Attia^b ; ^{ahmed.s.attia@staff.cu.edu.eg" class="auth_mail" title="E-mail the corresponding author}

关键词：AAT deficiency ; Chronic obstructive pulmonary disease ; Bacteria ; Genotyping ; Pharmacotherapy

刊名：Journal of Advanced Research

出版年：2016

4.Genetic diversity estimates point to immediate efforts for conserving the endangered Tibetan sheep of India

作者：Rekha Sharma^a ; ^{rekvik@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Brijesh Kumar^b ; Reena Arora^a ; Sonika Ahlawat^a ; A.K. Mishra^a ; M.S. Tantia^a

关键词：Bottleneck ; Genetic diversity ; Heterozygote deficiency ; Microsatellite markers ; Tibetan sheep

刊名：Meta Gene

出版年：2016

5.A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis

作者：Ryosuke Bo^a ; ^b ; ¹ ; ^{ryobo@med.shimane-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Yuki Hasegawa^a ; Kenji Yamada^a ; Hironori Kobayashi^a ; Takeshi Taketani^a ; Seiji Fukuda^a ; Seiji Yamaguchi^a

关键词：Prenatal diagnosis ; Mitochondrial trifunctional protein (TFP) ; Acylcarnitine analysis ; Fatty acid oxidation ; HADHA gene

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

6.Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

作者：Brian P. Brooks ; MD ; PhD¹ ; ² ; ^{brooksb@mail.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Amy H. Thompson ; PhD¹ ; Jennifer L. Sloan ; MS ; PhD² ; Irini Manoli ; MD ; PhD² ; Nuria Carrillo-Carrasco ; MD³ ; Wadih M. Zein ; MD¹ ; Charles P. Venditti ; MD ; PhD²

关键词：BCVA ; best-corrected visual acuity ; cblC ; cobalamin C ; ERG ; electroretinography ; FF ; fix and follow ; logMAR ; logarithm of the minimum angle of resolution ; MMA ; methylmalonic acid ; OCT ; optical coherence tomography ; tHcy ; total plasma homocysteine ; VA ; visual acuity

刊名：Ophthalmology

出版年：2016

7.Fetal hydrocephalus and neonatal stroke as the first presentation of protein C deficiency

关键词：AT ; antithrombin ; CSF ; cerebrospinal fluid ; CT ; computed tomography ; MRI ; magnetic resonance imaging ; PC ; protein C ; PS ; protein S

刊名：Brain and Development

出版年：2016

8.Population genetics features for persistent, but transient, Botryllus schlosseri (Urochordata) congregations in a central Californian marina

作者：Arzu Karahan^a ; ^b ; ^{arzukarahan@ims.metu.edu.tr" class="auth_mail" title="E-mail the corresponding author} ; Jacob Douek^b ; ^{douek@ocean.org.il" class="auth_mail" title="E-mail the corresponding author} ; Guy Paz^b ; ^{guy@ocean.org.il" class="auth_mail" title="E-mail the corresponding author} ; Baruch Rinkevich^b ; ^{buki@ocean.org.il" class="auth_mail" title="E-mail the corresponding author}

关键词：Ascidian ; COI ; Heterozygote deficiency ; Microsatellite ; Moss Landing ; Phylogeography

刊名：Molecular Phylogenetics and Evolution

出版年：2016

9.Alpha-1 Antitrypsin Deficiency in COPD Patients: A Cross-Sectional Study

作者：Patricia Beatriz Sorroche^a ; ^{patricia.sorroche@hospitalitaliano.org.ar" class="auth_mail" title="E-mail the corresponding author} ; Mariano Ferná ; ndez Acquier^b ; Orlando Ló ; pez Jove^b ; Eduardo Giugno^b ; Salvador Pace^b ; Beatriz Livellara^a ; Susana Legal^a ; José ; Oyhamburu^a ; Marí ; a Soledad Saez^a

关键词：Alpha-1 antitrypsin deficiency ; Chronic obstructive pulmonary disease ; Dried blood spot testing

刊名：Archivos de Bronconeumología (English Edition)

出版年：2015

10.The influence of L-opsin gene polymorphisms and neural ageing on spatio-chromatic contrast sensitivity in 20-71 year olds

作者：Elise W. Dees^a ; ^b ; Stuart J. Gilson^a ; Maureen Neitz^c ; Rigmor C. Baraas^a ; ^{rigmor.baraas@hbv.no" class="auth_mail" title="E-mail the corresponding author}

关键词：Color vision ; Heterozygotes for color deficiency ; Opsin genes ; Polymorphisms ; Spatio-chromatic sensitivity ; Senescence

刊名：Vision Research

出版年：2015

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