Source: RISalud-ANDALUCIA. Repositorio Institucional de Salud de AndalucíainstnameEUROPEAN JOURNAL OF HUMAN GENETICSr-IIS La Fe. Repositorio Institucional de Producción Científica del

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Academic Journal

A IMPORTÂNCIA DA INCLUSÃO DA IMUNODEFICIÊNCIA COMBINADA SEVERA NA TRIAGEM NEONATAL PÚBLICA DO BRASIL/ THE IMPORTANCE OF INCLUDING SEVERE COMBINED IMMUNODEFICIENCY IN PUBLIC NEONATAL SCREENING IN BRAZIL

Authors : Ana Beatriz Dalla Déa Trombini; Anna Julia Guiraldeli; Lucas Gaspar Ribeiro

Subjects: 0303 health sciences; 03 medical and health sciences

Source: Brazilian Journal of Development. 6:79906-79909

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Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt

Authors : Ghada I.Z. Ali; Wael El Garf; Christine William Shaker Basanti

Subjects: Medicine (General); Q1-390; 0303 health sciences

Source: J Adv ResJournal of Advanced Research, Vol 12, Iss, Pp 39-45 (2018)

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Editorial Letter to the Special Issue on Newborn Screening in Latin America (Commemorating the Silver Jubilee of the Latin American Society for Inborn Errors of Metabolism and Neonatal Screening - SLEIMPN)

Authors : Graciela Queiruga; Gustavo JC Borrajo; Verónica Cornejo

Subjects: Medicine (General); 0303 health sciences; 03 medical and health sciences

Source: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)Journal of Inborn Errors of Metabolism and Screening, Volume: 9,

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Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening

Authors : Perone, C.; Medeiros, G.S.; del Castillo, D.M.

Subjects: Medicine (General); 0303 health sciences; Cystic Fibrosis

Source: Brazilian Journal of Medical and Biological Research, Vol 43, Iss 2, Pp 134-138 (2010)Brazilian Journal of Medical and Biological Research v.43 n.2 2010Brazilian Journal of Medical and

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Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine‐impregnated paper: preliminary results of an improved DMB‐based procedure

Authors : J. Fidalgo; J.R. Alonso-Fernández; C. Colón

Subjects: Paper; Aging; 0303 health sciences

Source: Journal of Clinical Laboratory Analysis. 24:149-153

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A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document

Authors : Cornel, M.C.; Rigter, T.; Weinreich, S.S.

Subjects: Parents; 0303 health sciences; Infant, Newborn

Source: Eur J Hum GenetCornel, M C, Rigter, T, Weinreich, S S, Burgard, P, Hoffmann, G F, Lindner, M, Loeber, J G, Rupp, K, Taruscio, D & Vittozzi, L 2014, ' A framework to start the debate on

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The enzymology of mitochondrial fatty acid beta‐oxidation and its application to follow‐up analysis of positive neonatal screening results

Authors : R.J.A. Wanders; J.P.N. Ruiter; L. Ijlst

Subjects: 0303 health sciences; Mitochondrial Diseases; Genotype

Source: J Inherit Metab Dis

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The long quest for neonatal screening for severe combined immunodeficiency

Authors : Rebecca H. Buckley

Subjects: 0303 health sciences; T-Lymphocytes; Hematopoietic Stem Cell Transplantation

Source: Journal of Allergy and Clinical Immunology. 129:597-604

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نتائج البحث

فلترة النتائج

The significance of machine learning in neonatal screening for inherited metabolic diseases

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

A IMPORTÂNCIA DA INCLUSÃO DA IMUNODEFICIÊNCIA COMBINADA SEVERA NA TRIAGEM NEONATAL PÚBLICA DO BRASIL/ THE IMPORTANCE OF INCLUDING SEVERE COMBINED IMMUNODEFICIENCY IN PUBLIC NEONATAL SCREENING IN BRAZIL

Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt

Editorial Letter to the Special Issue on Newborn Screening in Latin America (Commemorating the Silver Jubilee of the Latin American Society for Inborn Errors of Metabolism and Neonatal Screening - SLEIMPN)

Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening

Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine‐impregnated paper: preliminary results of an improved DMB‐based procedure

A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document

The enzymology of mitochondrial fatty acid beta‐oxidation and its application to follow‐up analysis of positive neonatal screening results

The long quest for neonatal screening for severe combined immunodeficiency

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