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1دورية أكاديمية
المؤلفون: Giancarlo la Marca, Rachel. S. Carling, Stuart. J. Moat, Raquel Yahyaoui, Enzo Ranieri, James. R. Bonham, Peter. C. J. I. Schielen
المصدر: International Journal of Neonatal Screening, Vol 9, Iss 1, p 15 (2023)
مصطلحات موضوعية: neonatal screening, next-generation sequencing, biochemical analysis, SCID screening, cystic fibrosis screening, proteomics, Pediatrics, RJ1-570
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Michael H. Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T. Turgeon, Frédérick M. Vaz, Li-yun Wang, Dietrich Matern
المصدر: International Journal of Neonatal Screening, Vol 8, Iss 4, p 62 (2022)
مصطلحات موضوعية: newborn screening, tandem mass spectrometry, liquid chromatography, dried blood spots, inborn errors of metabolism, reflex testing, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Francyne Kubaski, Inês Sousa, Tatiana Amorim, Danilo Pereira, Joe Trometer, Alexandre Souza, Enzo Ranieri, Giulia Polo, Alberto Burlina, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, Shunji Tomatsu, Roberto Giugliani
المصدر: International Journal of Neonatal Screening, Vol 6, Iss 4, p 90 (2020)
مصطلحات موضوعية: mucopolysaccharidosis, newborn screening, glycosaminoglycans, enzyme assays, tandem mass spectrometry, fluorimetry, Pediatrics, RJ1-570
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Michael H. Gelb, Zoltan Lukacs, Enzo Ranieri, Peter C. J. I. Schielen
المصدر: International Journal of Neonatal Screening, Vol 5, Iss 1, p 1 (2018)
مصطلحات موضوعية: newborn screening, lysosomal storage diseases, cutoff values, tandem mass spectrometry, diagnosis, dried blood spots, enzymatic activity assays, Pediatrics, RJ1-570
وصف الملف: electronic resource
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5دورية أكاديمية
المصدر: Mediators of Inflammation, Vol 2013 (2013)
وصف الملف: electronic resource
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6
المؤلفون: Peter A. Kaub, Enzo Ranieri, P. Sharp, Janice M. Fletcher
المصدر: Journal of Paediatrics and Child Health. 58:630-635
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Autism Spectrum Disorder, business.industry, Incidence (epidemiology), nutritional and metabolic diseases, Biochemical diagnosis, medicine.disease, Autistic spectrum, Smith-Lemli-Opitz Syndrome, Reference Values, Autism spectrum disorder, Smith–Lemli–Opitz syndrome, Pediatrics, Perinatology and Child Health, Clinical information, medicine, Humans, Biochemical testing, Autism, Autistic Disorder, business
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7
المؤلفون: Tony Huynh, Ronda Greaves, Nazha Mawad, Lawrence Greed, Tiffany Wotton, Veronica Wiley, Enzo Ranieri, Wayne Rankin, Jacobus Ungerer, Ricky Price, Dianne Webster, Natasha Heather
المصدر: Clinical chemistry and laboratory medicineReferences. 60(10)
مصطلحات موضوعية: Thyroxine, Neonatal Screening, Australasia, Biochemistry (medical), Clinical Biochemistry, Congenital Hypothyroidism, Infant, Newborn, Humans, Infant, Thyrotropin, General Medicine, Retrospective Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ef983e22d16d0ce44d0b6b3cf7a10a1
https://pubmed.ncbi.nlm.nih.gov/35998658 -
8
المؤلفون: Wan Chin Liaw, Janice M. Fletcher, Peter Sharp, Matilda R. Jackson, Xiaodan Ding, Chun Ong, Xenia Kaidonis, Enzo Ranieri, Sharon Byers, Ainslie L.K. Derrick-Roberts
المساهمون: Derrick-Roberts, Ainslie, Kaidonis, Xenia, Jackson, Matilda R, Liaw, Wan Chin, Ding, XiaoDan, Ong, Chun, Ranieri, Enzo, Sharp, Peter, Fletcher, Janice, Byers, Sharon
المصدر: Molecular Genetics and Metabolism. 131:197-205
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Mucopolysaccharidosis I, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, G(M2) Ganglioside, Neuropathology, 030105 genetics & heredity, Biochemistry, Glycosaminoglycan, Mice, Mucopolysaccharidosis III, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Genetics, Animals, G(M3) Ganglioside, Humans, Medicine, Maze Learning, skin and connective tissue diseases, Molecular Biology, Glucuronidase, Glycosaminoglycans, Ganglioside, business.industry, Neurodegeneration, Mucopolysaccharidosis VII, Brain, medicine.disease, Disease Models, Animal, Heparitin Sulfate, business, 030217 neurology & neurosurgery
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9
المؤلفون: Ralph Fingerhut, Janice Fletcher, Enzo Ranieri
المصدر: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN: 9783030677268
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::56b645613d5155cbff4bc8e83f501f8b
https://doi.org/10.1007/978-3-030-67727-5_1 -
10
المؤلفون: Tony Huynh, Ronda Greaves, Nazha Mawad, Lawrence Greed, Tiffany Wotton, Veronica Wiley, Enzo Ranieri, Wayne Rankin, Jacobus Ungerer, Ricky Price, Dianne Webster, Natasha Heather, Australasian Paediatric Endocrine G Subcommittee
المصدر: SSRN Electronic Journal.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d2c65e656e622a92eb0a0d1a20e7b55c
https://doi.org/10.2139/ssrn.4081074