檢索結果 - Reuben Matalon

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  1. 1
    Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVER

    Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVER 由 Reuben Matalon, Albert Dorfman

    出版 1974
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  2. 2
    The mucopolysaccharidoses (a review).

    The mucopolysaccharidoses (a review). 由 Albert Dorfman, Reuben Matalon

    出版 1976
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  3. 3
    Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture.

    Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture. 由 Reuben Matalon, Albert Dorfman

    出版 1966
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  4. 4
    Glycosphingolipids in Cultured Human Skin Fibroblasts

    Glycosphingolipids in Cultured Human Skin Fibroblasts 由 Glyn Dawson, Reuben Matalon, Albert Dorfman

    出版 1972
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  5. 5
    Glycosphingolipids in Cultured Human Skin Fibroblasts

    Glycosphingolipids in Cultured Human Skin Fibroblasts 由 Glyn Dawson, Reuben Matalon, Albert Dorfman

    出版 1972
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  6. 6
    Cystic Fibrosis: Fractionation of Fibroblast Media Demonstrating Ciliary Inhibition

    Cystic Fibrosis: Fractionation of Fibroblast Media Demonstrating Ciliary Inhibition 由 Barbara H. Bowman, Don R. Barnett, Reuben Matalon, B. Shannon Danes, Alexander G. Bearn

    出版 1973
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  7. 7
    MCD Encodes Peroxisomal and Cytoplasmic Forms of Malonyl-CoA Decarboxylase and Is Mutated in Malonyl-CoA Decarboxylase Deficiency

    MCD Encodes Peroxisomal and Cytoplasmic Forms of Malonyl-CoA Decarboxylase and Is Mutated in Malonyl-CoA Decarboxylase Deficiency 由 Katherine A. Sacksteder, James C. Morrell, Ronald J. A. Wanders, Reuben Matalon, Stephen J. Gould

    出版 1999
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  8. 8
    Characterization of Mouse and Human GTP Cyclohydrolase I Genes

    Characterization of Mouse and Human GTP Cyclohydrolase I Genes 由 Hiroshi Ichinose, Tamae Ohye, Yoichi Matsuda, Tada-aki Hori, Nenad Blau, Alberto Burlina, Bobbye Rouse, Reuben Matalon, Keisuke Fujita, Toshiharu Nagatsu

    出版 1995
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  9. 9
    Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease

    Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease 由 Dominic J. Gessler, Danning Li, Hongxia Xu, Qin Su, Julio Sanmiguel, Serafettin Tuncer, Constance M. Moore, Jean A. King, Reuben Matalon, Guangping Gao

    出版 2017
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  10. 10
    Effects of Ascorbic Acid in Alkaptonuria: Alterations in Benzoquinone Acetic Acid and an Ontogenic Effect in Infancy

    Effects of Ascorbic Acid in Alkaptonuria: Alterations in Benzoquinone Acetic Acid and an Ontogenic Effect in Infancy 由 Jon A. Wolff, Bruce A. Barshop, William L. Nyhan, Jack Leslie, J. Edwin Seegmiller, Harry E. Gruber, Michael E. Garst, Susan Winter, K. Michals, Reuben Matalon

    出版 1989
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  11. 11
    Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease

    Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease 由 Chikkathur N. Madhavarao, Peethambaran Arun, John R. Moffett, Sylvia Szucs, Sankar Surendran, Reuben Matalon, James Garbern, Diana Hristova, Toby Johnson, Wei Jiang, M.A.A. Namboodiri

    出版 2005
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  12. 12
    Congenital Heart Disease in Maternal Phenylketonuria: Report from the Maternal PKU Collaborative Study

    Congenital Heart Disease in Maternal Phenylketonuria: Report from the Maternal PKU Collaborative Study 由 Harvey L. Levy, Per Guldberg, Flemming Güttler, William Hanley, Reuben Matalon, Bobbye Rouse, Friedrich K. Trefz, Colleen Azen, Elizabeth N. Allred, Felix de la Cruz, Richard Koch

    出版 2001
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  13. 13
    Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

    Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen 由 Peter H. Byers, Madeleine Duvic, Mary Atkinson, Meinhard Robinow, Lynne T. Smith, Stephen M. Krane, Marie T. Greally, Mark D. Ludman, Reuben Matalon, Susan P. Pauker, Deborah S. Quanbeck, Ulrike Schwarze

    出版 1997
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  14. 14
    Acute Otitis Media and Other Complications of Viral Respiratory Infection

    Acute Otitis Media and Other Complications of Viral Respiratory Infection 由 Tasnee Chonmaitree, Rocio Trujillo, Kristofer Jennings, Pedro Alvarez-Fernandez, Janak A. Patel, Michael J. Loeffelholz, Johanna Nokso‐Koivisto, Reuben Matalon, Richard B. Pyles, Aaron L. Miller, David P. McCormick

    出版 2016
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  15. 15
    Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine

    Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine 由 Reuben Matalon, K. Michals‐Matalon, Gita Bhatia, Alberto Burlina, Alessandro P. Burlina, Camila Pereira Braga, Laura M. Fiori, Marcello Giovannini, Elena Grechanina, P. Novikov, James J. Grady, Stephen K. Tyring, F. Güttler

    出版 2007
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  16. 16
    Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

    Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations 由 Heidi Erlandsen, Ángel L. Pey, Alejandra Gámez, Belén Pérez, Lourdes R. Desviat, Cristina Aguado, Richard Koch, Sankar Surendran, Stephen K. Tyring, Reuben Matalon, Charles R. Scriver, Magdalena Ugarte, Aurora Martı́nez, Raymond C. Stevens

    出版 2004
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  17. 17
    A Single Intravenous rAAV Injection as Late as P20 Achieves Efficacious and Sustained CNS Gene Therapy in Canavan Mice

    A Single Intravenous rAAV Injection as Late as P20 Achieves Efficacious and Sustained CNS Gene Therapy in Canavan Mice 由 Seemin Seher Ahmed, Huapeng Li, Chunyan Cao, Elif M. Sikoglu, Andrew R. Denninger, Qin Su, Samuel C. Eaton, Ana Arana Navarro, Jun Xie, Sylvia Szucs, Hongwei Zhang, Constance M. Moore, Daniel A. Kirschner, Thomas N. Seyfried, Terence R. Flotte, Reuben Matalon, Guangping Gao

    出版 2013
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  18. 18
    Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

    Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders 由 Patrícia B. S. Celestino-Soper, Cindy Skinner, Richard J. Schroer, Patricia A. Eng, Jayant Shenai, Małgorzata M.J. Nowaczyk, Deborah Terespolsky, Donna Cushing, Gayle Patel, LaDonna Immken, Alecia Willis, Joanna Wiszniewska, Reuben Matalon, Jill A. Rosenfeld, Roger E. Stevenson, Sung-Hae L. Kang, Sau Wai Cheung, Arthur L. Beaudet, Paweł Stankiewicz

    出版 2012
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  19. 19
    Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

    Multiple Phenotypes in Phosphoglucomutase 1 Deficiency 由 Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, Bobby G. Ng, Marie‐Estelle Losfeld, Sharita Timal, Kimiyo Raymond, Ping He, Mie Ichikawa, Joris A. Veltman, Karin Huijben, Yoon S. Shin, Vandana Sharma, Maciej Adamowicz, Martin Lammens, Janine Reunert, Anika Witten, Esther Schrapers, Gert Matthijs, Jaak Jaeken, Daisy Rymen, Tanya Stojkovic, Pascal Laforêt, François Petit, O. Aumaître, E. Czarnowska, Monique Piraud, Teodor Podskarbi, Charles A. Stanley, Reuben Matalon, Patricie Burda, Soraya Seyyedi, Volker Debus, Piotr Socha, Jolanta Sykut‐Cegielska, Francjan van Spronsen, Linda De Meırleır, Pietro Vajro, Terry J. DeClue, Can Fıçıcıoğlu, Yoshinao Wada, Ron A. Wevers, Dieter Vanderschaeghe, Nico Callewaert, Ralph Fingerhut, Emile Van Schaftingen, Hudson H. Freeze, Éva Morava, Dirk J. Lefeber, Thorsten Marquardt

    出版 2014
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  20. 20
    Identification of novel candidate disease genes from de novo exonic copy number variants

    Identification of novel candidate disease genes from de novo exonic copy number variants 由 Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban‐Akdemir, Amber N. Pursley, Sandesh C.S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell‐Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth Roeder, Kimberly Nugent, Patricia I. Bader, Gary A. Bellus, Michael A. Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert S. Wildin, Anita Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward P. Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz

    出版 2017
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