المؤلفون: Adam J. Guenzel, Patricia L. Hall, Anna I. Scott, Christina Lam, Irene J. Chang, Jenny Thies, Carlos R. Ferreira, Pavel Pichurin, William Laxen, Kimiyo Raymond, Dimitar K. Gavrilov, Devin Oglesbee, Piero Rinaldo, Dietrich Matern, Silvia Tortorelli

المصدر: JIMD Reports, Vol 60, Iss 1, Pp 67-74 (2021)

مصطلحات موضوعية: glutaric acidemia, glutarylcarnitine, glutaryl‐CoA dehydrogenase, low excretor, newborn screening, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/3aa1ce10246a476c8e42827109fe6a4c

المؤلفون: Ester Perales‐Clemente, Angela L. Hewitt, April L. Studinski, Jan‐Mendelt Tillema, William J. Laxen, Devin Oglesbee, Arne H. Graff, Piero Rinaldo, Brendan C. Lanpher

المصدر: JIMD Reports, Vol 58, Iss 1, Pp 21-28 (2021)

مصطلحات موضوعية: D‐2‐hydroxyglutaric aciduria, nonaccidental trauma, retinal hemorrhages, shaken baby syndrome, subdural hematomas, urine organic acids, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/051f413ccae14ef8906e30cecd0550a0

المؤلفون: Amy Brower, Kee Chan, Marc Williams, Susan Berry, Robert Currier, Piero Rinaldo, Michele Caggana, Amy Gaviglio, William Wilcox, Robert Steiner, Ingrid A. Holm, Jennifer Taylor, Joseph J. Orsini, Luca Brunelli, Joanne Adelberg, Olaf Bodamer, Sarah Viall, Curt Scharfe, Melissa Wasserstein, Jin Y. Chen, Maria Escolar, Aaron Goldenberg, Kathryn Swoboda, Can Ficicioglu, Dieter Matern, Rachel Lee, Michael Watson

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: research, genomics, ACMG, NBSTRN, newborn screening, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.867337/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/69e4a7a69f5f45cab99bfe2d9ff3fbdd

المؤلفون: Trevor Kirby, Dana C. Walters, Xutong Shi, Coleman Turgeon, Piero Rinaldo, Erland Arning, Paula Ashcraft, Teodoro Bottiglieri, Melissa DiBacco, Phillip L. Pearl, Jean-Baptiste Roullet, K. Michael Gibson

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Dried blood spots, Amino acids, Acylcarnitines, Creatinine, guanidinoacetate, Age-dependent correlations, γ-Hydroxybutyrate (GHB), Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01522-5; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/435f158ca9f4434a98b0aae66dfec9d1

المؤلفون: Madalyn Brown, Coleman Turgeon, Piero Rinaldo, Ana Pop, Gajja S. Salomons, Jean‐Baptiste Roullet, K. Michael Gibson

المصدر: JIMD Reports, Vol 53, Iss 1, Pp 29-38 (2020)

مصطلحات موضوعية: acylcarnitines, amino acids, creatine, dried bloodspots, newborn screening, succinic semialdehyde dehydrogenase deficiency, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/f09c60fe790c4c1c8c5563b14afbb728

المؤلفون: Coleman T Turgeon, Karen A Sanders, Piero Rinaldo, Dane Granger, Heather Hilgart, Dietrich Matern, Elitza S Theel

المصدر: PLoS ONE, Vol 16, Iss 5, p e0252621 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/8536055b822b454c98a7f874742b94d3

المؤلفون: Alexander D. Rowe, Stephanie D. Stoway, Henrik Åhlman, Vaneet Arora, Michele Caggana, Anna Fornari, Arthur Hagar, Patricia L. Hall, Gregg C. Marquardt, Bobby J. Miller, Christopher Nixon, Andrew P. Norgan, Joseph J. Orsini, Rolf D. Pettersen, Amy L. Piazza, Neil R. Schubauer, Amy C. Smith, Hao Tang, Norma P. Tavakoli, Sainan Wei, Rolf H. Zetterström, Robert J. Currier, Lars Mørkrid, Piero Rinaldo

المصدر: International Journal of Neonatal Screening; Volume 7; Issue 2; Pages: 23

مصطلحات موضوعية: bioinformatics, Collaborative Laboratory Integrated Reports (CLIR), dual scatter plot, congenital hypothyroidism, covariate-adjusted reference intervals, false positives, newborn screening, single condition tool, thyroid-stimulating hormone, thyroxine

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns7020023

الاتاحة: https://doi.org/10.3390/ijns7020023

المؤلفون: Hao Tang, Jamie Matteson, Piero Rinaldo, Silvia Tortorelli, Robert Currier, Stanley Sciortino

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 3; Pages: 62

مصطلحات موضوعية: newborn screening, X-linked adrenoleukodystrophy, very long-chain fatty-acids, ATP binding cassette subfamily D member 1, variants of uncertain significance, confirmatory test, bioinformatics, post-analytical interpretation, screening test performance

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6030062

الاتاحة: https://doi.org/10.3390/ijns6030062

المؤلفون: Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, Jens Jørgensen, Erle Kristensen, Gunnþórunn Gunnarsdottir, Eirik Vangsøy Hansen, Janne Strand, Emma Lundman, Sacha Ferdinandusse, Cathrin Lytomt Salvador, Berit Woldseth, Yngve T. Bliksrud, Carlos Sagredo, Øyvind E. Olsen, Mona C. Berge, Anette Kjoshagen Trømborg, Anders Ziegler, Jin Hui Zhang, Linda Karlsen Sørgjerd, Mari Ytre-Arne, Silje Hogner, Siv M. Løvoll, Mette R. Kløvstad Olavsen, Dionne Navarrete, Hege J. Gaup, Rina Lilje, Rolf H. Zetterström, Asbjørg Stray-Pedersen, Terje Rootwelt, Piero Rinaldo, Alexander D. Rowe, Rolf D. Pettersen

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 3; Pages: 51

مصطلحات موضوعية: newborn screening, dried blood spots, cut-off values, CLIR, second-tier DNA testing, outcome

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6030051

الاتاحة: https://doi.org/10.3390/ijns6030051

المؤلفون: Karen A. Sanders, Dimitar K. Gavrilov, Devin Oglesbee, Kimiyo M. Raymond, Silvia Tortorelli, John J. Hopwood, Fred Lorey, Ramanath Majumdar, Charles A. Kroll, Amber M. McDonald, Jean M. Lacey, Coleman T. Turgeon, Justin N. Tucker, Hao Tang, Robert Currier, Grazia Isaya, Piero Rinaldo, Dietrich Matern

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 2; Pages: 44

مصطلحات موضوعية: newborn screening, Fabry disease, Gaucher disease, mucopolysaccharidosis type I, Pompe disease, tandem mass spectrometry, immunoassay, microfluidics, bioinformatics, post-analytical interpretation

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6020044

الاتاحة: https://doi.org/10.3390/ijns6020044

المؤلفون: Dimitar K. Gavrilov, Amy L. Piazza, Gisele Pino, Coleman Turgeon, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Piero Rinaldo

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 2; Pages: 33

مصطلحات موضوعية: Collaborative Laboratory Integrated Reports (CLIR), false positive rate, newborn screening (NBS), second tier test (2TT)

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6020033

الاتاحة: https://doi.org/10.3390/ijns6020033

المؤلفون: Dawn S. Peck, Jean M. Lacey, Amy L. White, Gisele Pino, April L. Studinski, Rachel Fisher, Ayesha Ahmad, Linda Spencer, Sarah Viall, Natalie Shallow, Amy Siemon, J. Austin Hamm, Brianna K. Murray, Kelly L. Jones, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Dietrich Matern, Piero Rinaldo, Silvia Tortorelli

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 1; Pages: 10

مصطلحات موضوعية: newborn screening, MPS I, second-tier testing, GAGs, biomarkers, postanalytical interpretation

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6010010

الاتاحة: https://doi.org/10.3390/ijns6010010

المؤلفون: Erek Nelson, Fang Jin, Taofic Mounajjed, Yao Jia, Wei Zhou, Raymond D. Hickey, Aaron J. Johnson, Bruce Amiot, Scott L. Nyberg, Randall S. Prather, Adam J. Wood, Anna Spate, Dong Jin Joo, Min Shi, Kevin D. Wells, Anna Minshew, Ellen L. Larson, Joeseph Lillegard, Piero Rinaldo, Anan Abu Rmilah, Eric M. Walters, Jeffrey L. Platt, Melanie C. Bois, Melissa Samuel, Jaime Glorioso, Kristin M. Whitworth, Shennen A. Mao

المصدر: Tissue Engineering Part A. 28:150-160

مصطلحات موضوعية: Biomaterials, Hereditary tyrosinemia, medicine.anatomical_structure, Animal model, RAG2, Biomedical Engineering, medicine, Cancer research, Bioengineering, Biology, Biochemistry, Natural killer cell

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5a629f10412d29b240b29ca025b98851
https://doi.org/10.1089/ten.tea.2021.0057

المؤلفون: Raymond D. Hickey, Shennen A. Mao, Jaime Glorioso, Joseph B. Lillegard, James E. Fisher, Bruce Amiot, Piero Rinaldo, Cary O. Harding, Ronald Marler, Milton J. Finegold, Markus Grompe, Scott L. Nyberg

المصدر: Stem Cell Research, Vol 13, Iss 1, Pp 144-153 (2014)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506114000622; https://doaj.org/toc/1873-5061; https://doaj.org/toc/1876-7753

URL الوصول: https://doaj.org/article/cd4acf6a1a674b389a583745d498c1c3

المؤلفون: Piero Rinaldo, Devin Oglesbee, Angela L. Hewitt, William Laxen, April Studinski, Jan Mendelt Tillema, Ester Perales-Clemente, Arne H. Graff, Brendan C. Lanpher

المصدر: JIMD Reports, Vol 58, Iss 1, Pp 21-28 (2021)
JIMD Reports

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, subdural hematomas, lcsh:QH426-470, shaken baby syndrome, Endocrinology, Diabetes and Metabolism, Case Report, Case Reports, Biochemistry, Genetics and Molecular Biology (miscellaneous), lcsh:Diseases of the endocrine glands. Clinical endocrinology, D‐2‐hydroxyglutaric aciduria, Epilepsy, Internal Medicine, medicine, Medical diagnosis, retinal hemorrhages, lcsh:RC648-665, Psychomotor retardation, business.industry, Macrocephaly, medicine.disease, Subdural Hematomas, Hypotonia, nonaccidental trauma, lcsh:Genetics, urine organic acids, Concomitant, medicine.symptom, business, Urine organic acids

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d361e0068b27f46132bfdcbc5d2ad9
https://doaj.org/article/051f413ccae14ef8906e30cecd0550a0

المؤلفون: Rose Maase, Victor Skrinska, Noura Younes, Lubna Hassan, Rola Mitri, Dietrich Matern, Piero Rinaldo, Coleman Turgeon

المصدر: International Journal of Neonatal Screening; Volume 3; Issue 4; Pages: 32

مصطلحات موضوعية: homocysteine, homocystinuria, cystathionine-β-synthase deficiency, newborn screening

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns3040032

الاتاحة: https://doi.org/10.3390/ijns3040032

المؤلفون: Syed Jafar Raza Rizvi, Amy L Piazza, Seul Kee Byeon, Nabidul H. Chowdhury, Tarik Hasan, Sayedur Rahman, Piero Rinaldo, Akhilesh Pandey, Salahuddin Ahmed, Kwang Pyo Kim, Abdullah H Baqui, Rasheda Khanam, Rubhana Raqib, Madan Gopal Ramarajan, Anil K. Madugundu, Jae Hun Jung

المصدر: Molecular Omics. 17:956-966

مصطلحات موضوعية: medicine.medical_specialty, Gestational Age, Biochemistry, chemistry.chemical_compound, Pregnancy, Lysophosphatidic acid, Lipidomics, Genetics, Humans, Medicine, Molecular Biology, Appropriate for gestational age, business.industry, Obstetrics, Infant, Newborn, Infant, medicine.disease, Serum samples, chemistry, Case-Control Studies, Infant, Small for Gestational Age, Small for gestational age, Gestation, Female, Lysophospholipids, business, Lipid biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ba21e318966d4cf4f8fd1d773595cf3
https://doi.org/10.1039/d1mo00131k

المؤلفون: Anita E. Beck, Piero Rinaldo, Sheri A. Poskanzer, Matthew J. Schultz, Christina Lam, Kris Liedtke, Silvia Tortorelli, James T. Bennett, Irene J. Chang, Jenny Thies, Noemi Vidal-Folch, Eric J. Allenspach, Coleman T. Turgeon, Devin Oglesbee, Kimiyo Raymond, Dimitar Gavrilov, Dietrich Matern

المصدر: Am J Med Genet A

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, business.industry, Lymphocyte, 030105 genetics & heredity, medicine.disease, Article, Hypotonia, Hypogammaglobulinemia, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, medicine.anatomical_structure, Immune system, chemistry, Antigen, Immunology, Genetics, medicine, medicine.symptom, business, Congenital disorder of glycosylation, Genetics (clinical), Immunodeficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec59fb612e0bed872a0111698e29735f
https://doi.org/10.1002/ajmg.a.61914

المؤلفون: Rani H. Singh, Matthew J. Schultz, Gisele Pino, Piero Rinaldo, Brian C. Netzel, Kimiyo Raymond, Silvia Tortorelli, Devin Oglesbee, Dietrich Matern, Wendy E. Smith, Dimitar Gavrilov

المصدر: Molecular Genetics and Metabolism. 130:247-254

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Analyte, Adolescent, Nitisinone, Endocrinology, Diabetes and Metabolism, 030105 genetics & heredity, Biochemistry, Specimen Handling, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Liquid chromatography–mass spectrometry, Genetics, medicine, Humans, Amino Acids, Child, Molecular Biology, Aged, Aged, 80 and over, Newborn screening, Chromatography, Cyclohexanones, Tyrosinemias, business.industry, Selected reaction monitoring, Infant, Newborn, Infant, Middle Aged, Reference Standards, Prognosis, Heptanoates, Hereditary tyrosinemia, Specimen collection, Succinylacetone, Case-Control Studies, Child, Preschool, Nitrobenzoates, Female, Laboratories, business, Biomarkers, 030217 neurology & neurosurgery, Follow-Up Studies, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbe84ae96fd4450e4ced9f86b1c96295
https://doi.org/10.1016/j.ymgme.2020.06.001

المؤلفون: Thorhallur I. Halldorsson, Piero Rinaldo, Leifur Franzson, Reynir Tómas Geirsson, Thordur Thorkelsson, Ragnar Bjarnason, Harpa Vidarsdottir

المصدر: Pediatric Research. 89:1144-1151

مصطلحات موضوعية: Free carnitine, Newborn screening, medicine.medical_specialty, business.industry, Obstetrics, Succinylcarnitine, Birth weight, Confounding, Gestational age, 03 medical and health sciences, Low birth weight, 0302 clinical medicine, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Medicine, Child obesity, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::89e69deb38afb70904816c414cf188cd
https://doi.org/10.1038/s41390-020-1033-0