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在“Elsevier”中，命中：677条，耗时：0.0929601 秒

1.Targeted array CGH as a valuable molecular diagnostic approach: Experience in the diagnosis of mitochondrial and metabolic disorders

作者：Jing Wang ; Hongli Zhan¹ ; Fang-Yuan Li ; Amber N. Pursley ; Eric S. Schmitt ; Lee-Jun Wong ; ^{ljwong@bcm.edu}

关键词：Targeted aCGH ; Gene deletion ; Mitochondrial disorders ; Metabolic diseases ; Molecular diagnosis

刊名：Molecular Genetics and Metabolism

出版年：2012

2.Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review

作者：Clara D.M. van Karnebeek^a ; ^{cvankarnebeek@cw.bc.ca} ; Sylvia Stockler^b ; ^{sstockler@cw.bc.ca}

关键词：DD ; global developmental delay ; ID(s) ; intellectual disability (-ies) ; IEM(s) ; inborn errors of metabolism(s) ; MPS ; Mucopolysaccharidosis

刊名：Molecular Genetics and Metabolism

出版年：2012

3.Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): Extending the clinical and molecular spectrum of a rare disease

作者：A.E. Wü ; rde^a ; ^{anna.wuerde@uni-muenster.de} ; J. Reunert^a ; ^{janine.reunert@ukmuenster.de} ; S. Rust^b ; ^{stephan.rust@lifa-muenster.de} ; C. Hertzberg^c ; ^{christoph.hertzberg@vivantes.de} ; S. Haverkä ; mper^c ; ^{sabine.haverkaemper@vivantes.de} ; G. Nü ; rnberg^d ; ^e ; ^{gudrun.nuernberg@uni-koeln.de} ; P. Nü ; rnberg^d ; ^e ; ^{nuernberg@uni-koeln.de} ; L. Lehle^f ; ¹ ; ^{ludwig.lehle@biologie.uni-regensburg.de} ; R. Rossi^c ; ¹ ; ^{rainer.rossi@vivantes.de} ; T. Marquardt^a ; ¹ ; ^{marquat@uni-muenster.de}

关键词：CDG ; congenital disorder of glycosylation ; DPAGT1 ; UDP-GlcNAc ; Dolichol Phosphate N-Acetylglucosamine-1-Phosphotransferase ; ER ; endoplasmatic reticulum ; CHO ; chinese hamster ovary ; IEF ; isoelectric focusing ; SDS-PAGE ; sodium dodecyl sulphate-polyacrylamid

刊名：Molecular Genetics and Metabolism

出版年：2012

4.Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations

作者：Manuel Mé ; ndez^a ; ^{mmendez@h12o.es} ; Marí ; a Victoria Rossetti^a ; ^b ; ^c ; Sara Gó ; mez-Abecia^a ; Marí ; a-Josefa Morá ; n-Jimé ; nez^a ; Victoria Parera^b ; Alcira Batlle^b ; Rafael Enrí ; quez de Salamanca^a

关键词：UROD ; uroporphyrinogen decarboxylase ; PCT ; porphyria cutanea tarda ; F-PCT ; familial porphyria cutanea tarda ; S-PCT ; sporadic porphyria cutanea tarda ; HEP ; hepatoerythropoietic porphyria ; HFE ; hemochromatosis gene ; RBC ; red blood cells ; PPI ; plasma porphyr

刊名：Molecular Genetics and Metabolism

出版年：2012

5.Erratum to 鈥淭he spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients鈥?Molecular Genetics and Metabolism (2012) [34-43]

作者：Kavi P. Patel^a ; Thomas W. O'Brien^b ; Sankarasubramon H. Subramony^c ; Jonathan Shuster^d ; Peter W. Stacpoole^a ; ^b ; ^pws@ufl.edu

刊名：Molecular Genetics and Metabolism

出版年：2012

6.Corrigendum to abstract 鈥淰ery mild clinical manifestation of Hunter syndrome due to a novel IDS mutation鈥?[Molecular Genetics and Metabolism 105/2 (2012) S15-S69]

作者：Simeon Boyadjiev ; ^{simeon.boyd@ucdmc.ucdavis.edu} ; Liga Bivina ; Molly McGinniss ; Abigail Hata

刊名：Molecular Genetics and Metabolism

出版年：2012

7.Inborn errors of metabolism: Psychosocial challenges and proposed family systems model of intervention

作者：Stacy L. Weber^a ; ^{stacyweber@uwalumni.com} ; Summer Segal^b ; ^{SegalS@peds.ucsf.edu} ; Wendy Packman^a ; ^{wpackman@paloaltou.edu}

关键词：Inborn errors of metabolism ; Psychosocial ; Psychiatric ; Grief ; Family systems

刊名：Molecular Genetics and Metabolism

出版年：2012

8.Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease

作者：Tommaso Fasano^a ; ¹ ; Livia Pisciotta^b ; ¹ ; Letizia Bocchi^a ; Ornella Guardamagna^c ; Paola Assandro^c ; Claudio Rabacchi^a ; Paolo Zanoni^a ; Mirella Filocamo^d ; Stefano Bertolini^b ; ^{stefbert@unige.it} ; Sebastiano Calandra^a ; ^{sebcal@unimore.it}

关键词：LAL ; lysosomal acid lipase ; CE ; cholesteryl esters ; TG ; triglyceride ; HDL ; high density lipoproteins ; LDL ; low density lipoproteins ; WD ; Wolman Disease ; CESD ; cholesteryl ester storage disease ; Apo A-I ; apolipoprotein A-I ; Apo B ; apolipoprotein B

刊名：Molecular Genetics and Metabolism

出版年：2012

9.Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California

作者：Natalie M. Gallant^a ; ^b ; Karen Leydiker^c ; Hao Tang^d ; Lisa Feuchtbaum^d ; Fred Lorey^d ; Rebecca Puckett^c ; Joshua L. Deignan^e ; Julie Neidich^f ; Naghmeh Dorrani^a ; ^b ; Erica Chang^a ; ^b ; Bruce A. Barshop^g ; Stephen D. Cederbaum^a ; ^b ; Jose E. Abdenur^c ; ^{jabdenur@choc.org} ; Raymond Y. Wang^c

关键词：Newborn screening ; Short chain acyl-CoA dehydrogenase ; Short chain acyl-CoA dehydrogenase deficiency ; ACADS ; SCAD ; Clinical outcome

刊名：Molecular Genetics and Metabolism

出版年：2012

10.Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients

作者：Kshitij Srivastava^a ; Ping Hu^a ; Benjamin D. Solomon^a ; Jeffrey E. Ming^b ; Erich Roessler^a ; Maximilian Muenke^a ; ^{mamuenke@mail.nih.gov}

关键词：Holoprosencephaly (HPE) ; Noggin (NOG) ; Forebrain ; Mutation ; Modifier

刊名：Molecular Genetics and Metabolism

出版年：2012

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