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在“Elsevier电子期刊”中，命中：506条，耗时：0.0409759 秒

在所有数据库中总计命中：1,084条

1.Allele-Level HLA Matching Impacts Key Outcomes Following Umbilical Cord Blood Transplantation for Inherited Metabolic Disorders

作者：Kanwaldeep K. Mallhi¹ ; Angela R. Smith¹ ; Todd E. DeFor² ; Troy C. Lund¹ ; Paul J. Orchard¹ ; Weston P. Miller¹ ; ^{mill4991@umn.edu}

关键词：Stem cell transplantation ; Inherited metabolic disorders ; Engrafted survival outcomes ; High resolution ; Allelic HLA ; Umbilical cord

刊名：Biology of Blood and Marrow Transplantation

出版年：2017

2.A novel tandem mass spectrometry method for first-line screening of mainly beta-thalassemia from dried blood spots

作者：Chaowen Yu^a ; ^b ; ^c ; ^d ; ¹ ; Shuodan Huang^e ; ¹ ; Ming Wang^a ; ^b ; ^c ; ^d ; Juan Zhang^a ; ^b ; ^c ; ^d ; Hao Liu^a ; ^b ; ^c ; ^d ; Zhaojian Yuan^a ; ^b ; ^c ; ^d ; Xingbin Wang^a ; ^b ; ^c ; ^d ; Xiaoyan He^a ; ^b ; ^c ; ^d ; Jie Wang^f ; ^{wj59726@sina.com} ; Lin Zou^a ; ^b ; ^c ; ^d ; ^{zoulin74@126.com}

关键词：Hb ; hemoglobin ; MS/MS ; tandem mass spectrometry ; SCD ; sickle cell disorders ; DBS ; dried blood spots ; IMD ; inherited metabolic diseases ; MRM ; multiple reaction monitoring ; EOFT ; erythrocyte osmotic fragility test ; IEF ; isoelectric focusing ; HPLC ; high performance liquid chromatography ; AHSP ; αHb-stabilizing protein

刊名：Journal of Proteomics

出版年：2017

3.Hypersomnolence-hyperkinetic movement disorder in a child with compound heterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene

作者：Madhu Nagappa^a ; ^b ; Parayil Sankaran Bindu^a ; ^b ; ^{drpsbindu@yahoo.co.in} ; Shwetha Chiplunkar^b ; ^c ; Periasamy Govindaraj^a ; ^b ; Gayathri Narayanappa^b ; ^d ; Ayyappan Krishnan^a ; M.M. Srinivas Bharath^e ; Aarthi Swaminathan^f ; Jitender Saini^f ; Hanumanthapura R. Arvinda^f ; Sanjib Sinha^a ; Pavagada S. Mathuranath^a ; Arun B. Taly^a ; ^b

关键词：ABAT ; GABA ; Hyperkinetic movement disorder ; Hypersomnolence

刊名：Brain and Development

出版年：2017

4.Challenges identified in the management of patients with inherited metabolic disorders - A five year experience from Pakistan

作者：Bushra Afroze^a ; ^{bushra.afroze@aku.edu" class="auth_mail" title="E-mail the corresponding author} ; Laila Lakhani^b ; ^{Laila.lakhani@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Farah Naz^b ; ^{farahnaz11@gamil.com" class="auth_mail" title="E-mail the corresponding author} ; Sana Somani^b ; ^{sana_somani@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Zabedah Md. Yunus^c ; ^{zabedah@imr.gov.my" class="auth_mail" title="E-mail the corresponding author} ; Nick Brown^d ; ^{nickjbrown@gmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Inherited metabolic disorders ; Pakistan ; Treatment ; Antenatal testing ; Newborn screening ; Cascade screening

刊名：Egyptian Journal of Medical Human Genetics

出版年：2016

5.The eye and the skin in nonendocrine metabolic disorders

刊名：Clinics in Dermatology

出版年：2016

6.Neurometabolic disorders are treatable causes of dystonia

作者：A. Kuiper^a ; H. Eggink^a ; M.A.J. Tijssen^a ; T.J. de Koning^a ; ^b ; ^{t.j.de.koning@umcg.nl" class="auth_mail" title="E-mail the corresponding author}

关键词：Dystonia ; Inborn errors of metabolism ; Next generation sequencing ; Non-motor symptoms ; Quality of life

刊名：Revue Neurologique

出版年：2016

7.Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene

作者：Khairunnisa Mukhtiar^a ; Shahnaz Ibrahim^a ; ^{shahnaz.ibrahim@aku.edu" class="auth_mail" title="E-mail the corresponding author} ; Karin Tuschl^b ; Phillipa Mills^b

关键词：Inherited hypermanganesemia ; Polycythemia ; SLC30A10 mutation

刊名：Brain and Development

出版年：2016

8.Clinical presentation, etiology, and outcome of stroke in children: A hospital-based study

作者：Amira Masri^a ; ^{masriamira69@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Iyad Al-Ammouri^b

关键词：Stroke ; Children ; Jordan ; Neurometabolic diseases ; MTHFR gene

刊名：Brain and Development

出版年：2016

9.One carbon metabolism, a complex metabolic network involved in pathomechanisms of inherited disorders, birth defects and age-related pathologies

作者：Jean-Louis Gué ; ant ^{jean-louis.gueant@medecine.uhp-nancy.fr" class="auth_mail" title="E-mail the corresponding author} ^{jl.gueant@chu-nancy.fr" class="auth_mail" title="E-mail the corresponding author}

刊名：Biochimie

出版年：2016

10.New insights into the presence of sodium hydrogen urate monohydrate in Randall's plaque

作者：Dominique Bazin^a ; ^{dominique.bazin@upmc.fr} ; Emmanuel Letavernier^b ; ^c ; Chantal Jouanneau^c ; Pierre Ronco^c ; ^d ; Christophe Sandt^e ; ⁱ ; Paul Dumas^e ; ⁱ ; Guy Matzen^f ; Emmanuel Vé ; ron^f ; Jean-Philippe Haymann^b ; ^c ; Olivier Traxer^g ; Pierre Conort^h ; Michel Daudon^b ; ^c

关键词：Randall's plaque ; Kidney stone ; Environmental scanning electron microscopy ; Synchrotron radiation-μFourier Transform Infra Red spectroscopy ; Sodium hydrogen urate monohydrate ; Calcium phosphate apatite

刊名：Comptes Rendus Chimie

出版年：2016

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