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在“Elsevier电子期刊”中，命中：209条，耗时：0.0909633 秒

在所有数据库中总计命中：2,203条

1.Niemann-Pick disease, type C and Roscoe Brady

作者：Marc C. Patterson^a ; ^b ; ^{patterson.marc@mayo.edu} ; Steven U. Walkley^c ; ^{Steve.walkley@einstein.yu.edu}

关键词：Roscoe Brady ; Niemann-Pick disease ; Type C ; Cholesterol ; Oxysterols ; Gangliosides ; Biomarkers ; Filipin ; Cyclodextrin ; Miglustat

刊名：Molecular Genetics and Metabolism

出版年：2017

2.Disorders in the initial steps of steroid hormone synthesis

作者：Walter L. Miller ; ^{wlmlab@ucsf.edu}

关键词：ABC ; ATP-binding casette ; ACAT ; acyl-CoA ; cholesterol acyltransferase ; ALLO ; allopregnanolone ; CAH ; congenital adrenal hyperplasia ; CESD ; cholesterol ester storage disease ; CoA ; coenzyme A ; CYP ; cytochrome P450 ; DSD ; Disordered sexual development ; ER ; endoplasmic reticulum ; ERMES ; endoplasmic reticulum-mitochondria encounter structure ; FAD ; flavin adenine dinucleotide ; HDL ; High density lipoprotein ; HMG-CoA ; 3-hydroxy-3-methylglutaryl co-enzyme A ; HPBCD ; hydroxypropyl-β-cyclodextrin ; IMM ; inner m

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

3.Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

作者：Janine Reunert^a ; Manfred Fobker^b ; Frank Kannenberg^b ; Ingrid Du Chesne^a ; Maria Plate^a ; Judith Wellhausen^a ; Stephan Rust^a ; Thorsten Marquardt^a ; ^{marquat@uni-muenster.de" class="auth_mail" title="E-mail the corresponding author}

关键词：NPC ; Niemann Pick type C ; c-triol/cholestantriol ; cholestane-3β ; 5α ; 6β-triol ; 7-KC ; 7-ketocholesterol ; CESD ; cholesterol ester storage disease ; EVS ; exome variant server ; HGMD ; Human Gene Mutation Database ; ROC ; receiver-operating-characteristic

刊名：EBioMedicine

出版年：2016

4.In vitro evaluation of 2-hydroxyalkylated β-cyclodextrins as potential therapeutic agents for Niemann-Pick Type C disease

作者：Yuki Kondo^a ; ¹ ; Hiroko Tokumaru^a ; ¹ ; Yoichi Ishitsuka^a ; ¹ ; Tomoko Matsumoto^a ; Makiko Taguchi^a ; Keiichi Motoyama^b ; Taishi Higashi^b ; Hidetoshi Arima^b ; Muneaki Matsuo^c ; Katsumi Higaki^d ; Kousaku Ohno^e ; Tetsumi Irie^a ; ^{tirie@gpo.kumamoto-u.ac.jp" class="auth_mail" title="E-mail the corresponding author}

关键词：Niemann-Pick Type C ; Hydroxypropyl-β-cyclodextrin ; Lysosomal storage disease ; Cholesterol

刊名：Molecular Genetics and Metabolism

出版年：2016

5.Cholesterol trafficking-related serum lipoprotein functions in children with cholesteryl ester storage disease

作者：Francesca Zimetti^a ; ¹ ; Elda Favari^a ; ¹ ; ^{elda.favari@unipr.it" class="auth_mail" title="E-mail the corresponding author} ; Paola Cagliero^b ; Maria Pia Adorni^a ; Nicoletta Ronda^a ; Renato Bonardi^c ; Monica Gomaraschi^d ; Laura Calabresi^d ; Franco Bernini^a ; Ornella Guardamagna^b

关键词：HDL ; Atherosclerosis ; Cholesteryl ester storage disease ; Lipoproteins ; Lysosomal acid lipase ; Cholesterol efflux capacity ; Cholesterol loading capacity

刊名：Atherosclerosis

出版年：2015

6.Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis

关键词：GDE ; Glycogen debranching enzyme ; BMD ; bone mineral density ; DXA ; dual-emission-X-ray absorptiometry ; QUS ; quantitative ultrasound ; OC ; osteocalcin ; CTX ; C-terminal cross-linking telopeptide of type I collagen ; IPAQ ; International Physical Activity Questionnaire

刊名：Bone

出版年：2016

7.The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease

作者：Francesca Rosafio^a ; Francesco Cavallieri^a ; Pietro Guaraldi^b ; Franco Taroni^c ; Paolo Frigio Nichelli^a ; Jessica Mandrioli^a ; ^{j.mandrioli@ausl.mo.it" class="auth_mail" title="E-mail the corresponding author}

关键词：Cerebrotendinous xanthomatosis ; Spinocerebellar ataxia ; CYP27A1 gene ; Cholesterol and cholestanol deposition ; Chenodeoxycholic acid

刊名：Clinical Neurology and Neurosurgery

出版年：2016

8.Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

关键词：7-KC ; 7-Ketocholesterol ; ACAT ; Acyl-CoA ; cholesterol acyltransferase ; ASMDs ; Acid sphingomyelinase deficiencies ; BMP ; Bis(monoacylglycero)phosphate ; C-triol ; Cholestane-3β ; 5α ; 6β-triol ; EOA ; Early-onset ataxia ; GC/MS ; Gas chromatography&ndash ; mass spectrometry ; HPLC ; High performance liquid chromatography ; L ; Lysosome ; LC-MS/MS ; Liquid chromatography-tandem mass spectrometry ; LDL ; Low density lipoprotein ; LE ; Late endosome ; LPDS ; Lipoprotein-deficient serum ; LSDs ; Lysosomal storage disorders ; lyso

刊名：Molecular Genetics and Metabolism

出版年：2016

9.Case presentation: A girl with cholesterol ester storage disease

作者：Fatma T. Eminoglu ; Musa Gö ; kalp Bolkent ; Zarife Kuloglu ; Aydan Kansu

刊名：Molecular Genetics and Metabolism

出版年：2016

10.Development of a selective activity-based probe for glycosylated LIPA

作者：Adam G. Schwaid^a ; ^{aschwaid@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Wanida Ruangsiriluk^b ; Allan R. Reyes^b ; Shawn Cabral^c ; Francis Rajamohan^d ; Meihua Tu^a ; Jessica Ward^b ; Philip A. Carpino^a

关键词：Lysosomal acid lipase ; Activity based protein profiling ; Serine hydrolase ; Glycosylation ; LAL ; LIPA

刊名：Bioorganic & Medicinal Chemistry Letters

出版年：2016

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