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FOREWORD FROM SLEIMPN Eighteen months after the successful ICIEM in Brazil, our Society is gathering again, this time in Buenos Aires, Argentina, for the XI Congress of the SLEIMPN (May 12-15, 2019) For those of us who have been part of the SLEIMPN for many years, it is a pleasure to whiteness its growth, not only in the number of members, but also in que quality of the scientific production in our Region. The main theme of our Congress is “From NBS to treatment: a shared challenge”. I strongly believe that SLEIMPN is uniquely positioned to address this challenge, by exchanging knowledge and ideas to improve care in all aspects of the continuum that exists from a Newborn Screening (NBS) test to the treatment of patients and families affected by Inborn Errors of Metabolism (IEM). The scientific program includes plenary and parallel sessions covering relevant topics of IEM and NBS. Additionally, there will be three pre-congress courses on Nutrition, Genetics and Newborn Screening, as well as sponsored satellite symposiums. More than 30 faculty members, from around the world, will be generously sharing their knowledge. We hope that the record of the 279 abstracts of the free communications presented at this congress in this Special JIEMS Supplement will contribute to the field of IEM and NBS. Jose E. Abdenur President of SLEIMPN President of the XI Latin American Congress of Inborn Errors or Metabolism and Neonatal Screening FOREWORD FROM JIEMS The Journal of Inborn Errors of Metabolism and Screening, the official journal of the Latin American Society of Inborn Errors of Metabolism and Neonatal Screening, is pleased to introduce this special supplement with the abstracts accepted for presentation at the 11th Congress of the Latin American Society of Inborn Errors of Metabolism and Neonatal Screening (Buenos Aires, Argentina, May 12-15, 2019). In this special supplement you will find 279 abstracts submitted as free communications and accepted for presentation. In the index you will find first those abstracts accepted as oral communications and then those presented as posters, sub-divided in different categories. This supplement is also available online (open access) at the JIEMS website (www.jiems-journal.org). We hope that this JIEMS supplement contributes to disseminate the scientific output of this major event in the IEM field. Roberto Giugliani JIEMS Editor-in-Chief Journal of Inborn Errors of Metabolism and Screening (ISSN: 23264098) Editor-in-Chief Roberto Giugliani Porto Alegre, Brazil Managing Editor Guilherme Baldo Porto Alegre, Brazil Assistant Technical Editors Francyne Kubaski, Graziella Rodrigues Porto Alegre, Brazil Filippo Vairo USA Editorial Board Jose Abdenur Gregory Enns Pilar Peredo Orange, CA, USA Palo Alto, CA, USA Santiago, Chile Hernan Amartino Isabel Ibarra-González Juan Politei Buenos Aires, Argentina Mexico City, Mexico Buenos Aires, Argentina Luis Barrera Victor de Jesus Graciela Queiruga Buenos Aires, Argentina Atlanta, GA, USA Montevideo, Uruguai Michael Beck Laura Laróvere Paula Rozenfeld Mainz, Germany Cordoba, Argentina La Plata, Argentina Brian Bigger Alexandra Latini Andrea Schenone Manchester, UK Florianópolis, Brazil Buenos Aires, Argentina Juan F. Cabello Gerard Loeber Marcela Vela-Amieva Santiago, Chile Bilthoven, Netherlands Mexico City, Mexico José S. Camelo Jr. Ursula Matte Moacir Wajner Ribeirão Preto, Brazil Porto Alegre, Brazil Porto Alegre, Brazil Verónica Cornejo Adriana Montaño Ronald Wanders Santiago, Chile St. Louis, MO, USA Amsterdam, Netherlands Terry Derks Carmencita Padilla Dianne Webster Groningen, Netherlands Manila, Philippines Auckland, New Zealand Gloria Duran Gregory Pastores Santiago, Chile New York, NY, USA SLEIMPN 2019 COMMITTEES Local Organizing Committee José ABDENUR Chair Hernán AMARTINO Ana CHIESA Hernán EIROA Laura LARÓVERE Andrea SCHENONE Norma SPÉCOLA Scientific Committee Inborn Errors of Metabolism Carolina FISCHINGER DE SOUZA (Brazil) Chair Carolina ARIAS (Chile) Leticia BELMONT (México) Scientific Committee Newborn Screening Gustavo BORRAJO (Argentina) Chair Marta ASCURRA (Paraguay) Mildred JIMÉNEZ (Costa Rica) Cecilia QUEIJO CANOSA (Uruguay) JIEMS SLEIMPN 2019 Supplement Committee Roberto GIUGLIANI (Brazil) Chair Guilherme BALDO(Brazil) Francyne KUBASKI (Brazil) Izabel Duarte MARQUES de SOUZA (Brazil) Graziella RODRIGUES (Brazil) Filippo VAIRO (USA) SLEIMPN 2019 SPONSORS (this list does not include companies who subscribed sponsorship after March 31, 2019) Sponsors Aconcagua BioMarin Innovative Medicines Group Sanofi-Genzyme Takeda Sponsors Fitz Roy Dr. Schär Medical Nutrition PerkinElmer Sponsor Champaqui Vitaflo Sponsors Siete Colores APR – Applied Pharma Research DLE GBT- Grupo Biotoscana Ultragenix Special Collaborations Archimed Life B-Life Cambrooke Lab Systems Mitotherapies Mendelics Nutricia Metabolics Orphan Europe Recordati – Rare Diseases Retrophin TOPIC INDEX Abstracts Selected for Oral Presentation Abstracts Pages 01 Inborn Errors of Metabolism O-001 to O-012 009 to 015 02 Newborn Screening O-013 to O-024 015 to 021 Abstracts Selected for Poster Presentation (IEM) Abstracts Pages 01 Adult Inborn errors of metabolism P-001 to P-004 021 to 023 02 Carbohydrate disorders P-005 to P-011 023 to 026 03 Dietetics and nutrition P-012 to P-019 027 to 031 04 Disorders of fatty acid oxidation and ketone body metabolism P-020 to P-023 031 to 033 05 Disorders of purines, pyramid., nucleic acids and porphyrias P-024 033 06 Disorders of vitamins, cofactors and trace elements P-025 to P-026 034 07 Glycosylation disorders/CDG, protein modification disorders P-027 to P-032 035 to 037 08 Lysosomal disorders: MPS, oligosaccharidoses P-033 to P-061 038 to 051 09 Lysosomal disorders: others P-062 to P-076 052 to 058 10 Lysosomal disorders: sphingolipidoses P-077 to P-091 059 to 066 11 Lysosomal disorders: treatment, enzyme replacement therapy P-092 to P-097 066 to 069 12 Miscellaneous P-098 to P-104 069 to 072 13 Mitochondrial disorders: mtDNA P-105 to P-106 072 to 073 Mitochondrial disorders: nuclear encoded, disorders of 14 P-107 to P-109 073 to 074 pyruvate metabolism and the Krebs cycle 15 Neurotransmitter and creatine related disorders P-110 to P-112 075 to 076 16 New metabolic disease groups P-113 to P-114 076 to 077 17 Novel diagnostic/laboratory methods P-115 to P-119 077 to 079 18 Organic acidurias: branched-chain P-120 to P-128 080 to 084 19 Organic acidurias: others P-129 to P-144 084 to 092 20 Peroxisomal, sterol, bile acid, lipid and lipoprotein disorders P-145 to P-149 092 to 094 21 Phenylketonuria general P-150 to P-159 095 to 099 22 Phenylketonuria: treatment, BH4, PEG-PAL P-160 to P-163 100 to 101 23 Amino Acid Disorders P-164 to P-172 102 to 106 24 Sulphur amino acid disorders P-173 to P-175 106 to 107 25 Urea cycle disorders P-176 to P-181 108 to 110 Abstracts Selected for Poster Presentation (Newborn Screening) Abstracts Pages 01 Phenylketonuria P-182 to P-187 111 to 114 02 Congenital Hypothyroidism P-188 to P-201 114 to 120 03 Congenital Adrenal Hyperplasia P-202 to P-205 121 to 122 04 Cystic Fibrosis P-206 to P-217 123 to 128 05 Galactosemia P-218 to P-219 128 to 129 06 MSUD P-220 129 07 Biotidinase Deficiency P-221 130 08 Fatty Acids Oxidation Defects P-222 131 09 Organic Acidurias P-223 131 10 Hemoglobinopathies P-224 to P-225 131 to 132 11 G6PD P-226 132 12 Lysosomal Storage Disorders P-227 to P-228 133 13 Methods Validation P-229 134 14 New Technologies P-230 134 15 Cut Off Values P-231 135 16 Dried Blood Spots P-232 to P-233 135 to 136 17 Quality Control P-234 to P-239 136 to 139 18 Quality Indicators P-240 to P-242 139 to 140 19 Expanded NBS P-243 to P-244 141 20 NBS Programs Description P-245 to P-254 142 to 146 21 Surveys P-255 147 JIEMS Supplement with SLEIMPN 2019 Abstracts 9 Book of Abstracts ABSTRACTS SELECTED FOR ORAL PRESENTATION revealed differentially expressed genes involved in the disease pathogenesis, decreased number and changed distribution of O-001 - INHIBITORS OF C-ABL KINASE FOR autophagosomes and reduced neuronal death and improved THE TREATMENT OF THE locomotor function in the NPA mouse model. NEURODEGENERATIVE NIEMANN-PICK CONCLUSION: c-Abl is activated and relevant in NPA TYPE A DISEASE neurodegeneration and autophagy alterations, supporting the potential use of c-Abl inhibitors for clinical treatment of NPA Zanlungo S1, Marín T1, De la Fuente C2, Acuña M1, Castro patients. J1, Cortés C3, Marugan J4, Dulcey A4, Gorshkov K4, Zheng FONDECYT: 1150186(SZ), 1161065(AA) CARE- UC W4 et al. Projecto Basal AFB170005, CONICYT-PCHA/Doctorado Nacional/2015-150038, MSCA-RISE-2016-Lysomod- (1) Biological Sciences Faculty - CARE-UC. (2) Pontificia 734825, FONDEF D10E1077. Universidad Católica de Chile. Santiago-Chile. (3)Bioinformatic and Genomic Center, Sciences Faculty, Universidad Mayor. Santiago-Chile. (4) NCATS-NIH, NIH O-002 - IN VITRO REDUCTION OF Chemical Genomic Center, Rockville- MD-USA. (5)Molecular LYSOSOMAL GANGLIOSIDE Medicine Institute, Medicine Faculty, Universidad de Lisboa. ACCUMULATION BY RECOMBINANT HUMAN Lisboa-Portugal. [email protected] BETA-HEXOSAMINIDASE PRODUCED IN PICHIA PASTORIS INTRODUCTION: Niemann-Pick type A (NPA) disease is a fatal lysosomal neurodegenerative disorder characterized by Espejo-Mojica AJ1, Vu M2, Rodríguez-López A1,3, Beltrán the deficiency in acid sphingomyelinase (ASM) and L1, Díaz D1, Mosquera A1, Li R2, ZhengAlméciga-Diaz CJ1 accumulation of sphingomyelin and cholesterol in lysosomes and autophagy alterations. (1) Instituto de Errores Innatos del Metabolismo, Pontificia We have described that c-Abl kinase is activated in other Universidad Javeriana. Bogotá – Colombia. (2) National neurodegenerative diseases and recent studies show a role for Center for Advancing Translational Sciences, National c-Abl in autophagy and cellular clearance. Although there are Institutes of Health, Bethesda, MD, USA. (3) Departamento de several c-Abl inhibitors approved by the FDA, most of them Química, Pontificia Universidad Javeriana, Bogotá, are poorly selective and present low CNS penetration.
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    US 20150240226A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2015/0240226A1 Mathur et al. (43) Pub. Date: Aug. 27, 2015 (54) NUCLEICACIDS AND PROTEINS AND CI2N 9/16 (2006.01) METHODS FOR MAKING AND USING THEMI CI2N 9/02 (2006.01) CI2N 9/78 (2006.01) (71) Applicant: BP Corporation North America Inc., CI2N 9/12 (2006.01) Naperville, IL (US) CI2N 9/24 (2006.01) CI2O 1/02 (2006.01) (72) Inventors: Eric J. Mathur, San Diego, CA (US); CI2N 9/42 (2006.01) Cathy Chang, San Marcos, CA (US) (52) U.S. Cl. CPC. CI2N 9/88 (2013.01); C12O 1/02 (2013.01); (21) Appl. No.: 14/630,006 CI2O I/04 (2013.01): CI2N 9/80 (2013.01); CI2N 9/241.1 (2013.01); C12N 9/0065 (22) Filed: Feb. 24, 2015 (2013.01); C12N 9/2437 (2013.01); C12N 9/14 Related U.S. Application Data (2013.01); C12N 9/16 (2013.01); C12N 9/0061 (2013.01); C12N 9/78 (2013.01); C12N 9/0071 (62) Division of application No. 13/400,365, filed on Feb. (2013.01); C12N 9/1241 (2013.01): CI2N 20, 2012, now Pat. No. 8,962,800, which is a division 9/2482 (2013.01); C07K 2/00 (2013.01); C12Y of application No. 1 1/817,403, filed on May 7, 2008, 305/01004 (2013.01); C12Y 1 1 1/01016 now Pat. No. 8,119,385, filed as application No. PCT/ (2013.01); C12Y302/01004 (2013.01); C12Y US2006/007642 on Mar. 3, 2006.
  • Springer Handbook of Enzymes

    Springer Handbook of Enzymes

    Dietmar Schomburg Ida Schomburg (Eds.) Springer Handbook of Enzymes Alphabetical Name Index 1 23 © Springer-Verlag Berlin Heidelberg New York 2010 This work is subject to copyright. All rights reserved, whether in whole or part of the material con- cerned, specifically the right of translation, printing and reprinting, reproduction and storage in data- bases. The publisher cannot assume any legal responsibility for given data. Commercial distribution is only permitted with the publishers written consent. Springer Handbook of Enzymes, Vols. 1–39 + Supplements 1–7, Name Index 2.4.1.60 abequosyltransferase, Vol. 31, p. 468 2.7.1.157 N-acetylgalactosamine kinase, Vol. S2, p. 268 4.2.3.18 abietadiene synthase, Vol. S7,p.276 3.1.6.12 N-acetylgalactosamine-4-sulfatase, Vol. 11, p. 300 1.14.13.93 (+)-abscisic acid 8’-hydroxylase, Vol. S1, p. 602 3.1.6.4 N-acetylgalactosamine-6-sulfatase, Vol. 11, p. 267 1.2.3.14 abscisic-aldehyde oxidase, Vol. S1, p. 176 3.2.1.49 a-N-acetylgalactosaminidase, Vol. 13,p.10 1.2.1.10 acetaldehyde dehydrogenase (acetylating), Vol. 20, 3.2.1.53 b-N-acetylgalactosaminidase, Vol. 13,p.91 p. 115 2.4.99.3 a-N-acetylgalactosaminide a-2,6-sialyltransferase, 3.5.1.63 4-acetamidobutyrate deacetylase, Vol. 14,p.528 Vol. 33,p.335 3.5.1.51 4-acetamidobutyryl-CoA deacetylase, Vol. 14, 2.4.1.147 acetylgalactosaminyl-O-glycosyl-glycoprotein b- p. 482 1,3-N-acetylglucosaminyltransferase, Vol. 32, 3.5.1.29 2-(acetamidomethylene)succinate hydrolase, p. 287 Vol.