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Academic Journal

Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease.

  • Authors : Posern C; Department of Pediatrics, University Medical Center Eppendorf, Martinistraße 52, 20246 Hamburg, Germany. Electronic address: .; Dreyer B

Subjects: Canavan Disease*/Canavan Disease*/Canavan Disease*/diagnosis ; Canavan Disease*/Canavan Disease*/Canavan Disease*/blood ; Canavan Disease*/Canavan Disease*/Canavan Disease*/genetics

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108489. Date of Electronic Publication: 2024 May 03.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias.

Subjects: Neonatal Screening*/Neonatal Screening*/Neonatal Screening*/methods ; Glutaryl-CoA Dehydrogenase*/Glutaryl-CoA Dehydrogenase*/Glutaryl-CoA Dehydrogenase*/deficiency ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diagnosis Glutaric Acidemia I

  • Source: Anales de pediatria [An Pediatr (Engl Ed)] 2024 May; Vol. 100 (5), pp. 318-324. Date of Electronic Publication: 2024 May 06.Publisher: Elsevier Country of Publication: Spain NLM ID: 101765626 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2341-2879

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Academic Journal

Neonatal Screening for Sickle Cell Disease in Western Andalusia: Results and Lessons Learnt after 3 Years of Implementation.

  • Authors : Núñez-Jurado D; Clinical Biochemistry Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Seville (IBiS/CSIC), Seville, Spain.; Payán-Pernía S

Subjects: Neonatal Screening*/Neonatal Screening*/Neonatal Screening*/methods ; Anemia, Sickle Cell*/Anemia, Sickle Cell*/Anemia, Sickle Cell*/diagnosis ; Anemia, Sickle Cell*/Anemia, Sickle Cell*/Anemia, Sickle Cell*/genetics

  • Source: American journal of perinatology [Am J Perinatol] 2024 May; Vol. 41 (S 01), pp. e893-e900. Date of Electronic Publication: 2022 Dec 29.Publisher: Thieme-Stratton Country of Publication: United States NLM ID: 8405212 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Sickle cell disease in French Guiana: assessing 30 years of neonatal screening (1992-2021)].

  • Authors : Elenga N; Service de médecine et chirurgie pédiatrique, Centre hospitalier de Cayenne, Cayenne, Guyane.; Ro V

Subjects: Anemia, Sickle Cell*/Anemia, Sickle Cell*/Anemia, Sickle Cell*/epidemiology ; Anemia, Sickle Cell*/Anemia, Sickle Cell*/Anemia, Sickle Cell*/diagnosis ; Anemia, Sickle Cell*/Anemia, Sickle Cell*/Anemia, Sickle Cell*/genetics

  • Source: Medecine tropicale et sante internationale [Med Trop Sante Int] 2024 Feb 13; Vol. 4 (1). Date of Electronic Publication: 2024 Feb 13 (Print Publication: 2024).Publisher: Société francophone de médecine tropicale et santé internationale Country of Publication: France NLM ID: 9918227363206676 Publication Model:

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Academic Journal

Up-to-date quality survey and evaluation of neonatal screening programs in China.

  • Authors : Zhang J; National Center for Clinical Laboratories, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology, Beijing, China.; Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Subjects: Neonatal Screening*; Infant, Newborn ; Pregnancy

  • Source: BMC pediatrics [BMC Pediatr] 2024 Jan 20; Vol. 24 (1), pp. 65. Date of Electronic Publication: 2024 Jan 20.Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431

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Academic Journal

Neonatal screening of ABO/RhD blood group and direct antiglobulin Coombs test. Experience of a single institution.

  • Authors : Baptista-González HA; Hematología Perinatal, Instituto Nacional de Perinatología.; Fundación Clínica Médica Sur.

Subjects: Coombs Test* ; ABO Blood-Group System* ; Rh-Hr Blood-Group System*

  • Source: Boletin medico del Hospital Infantil de Mexico [Bol Med Hosp Infant Mex] 2024; Vol. 81 (2), pp. 97-105.Publisher: Permanyer Country of Publication: Mexico NLM ID: 0414106 Publication Model: Print Cited Medium: Internet ISSN: 1665-1146 (Electronic)

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Academic Journal

[New developments in neonatal screening].

  • Authors : Michel M; Service d'endocrinologie, gynécologie, diabétologie pédiatriques, coordonnateur du centre régional de dépistage néonatal (CRDN) d'Île-de-France, centre des maladies endocriniennes rares de la croissance et du développement, hôpital universitaire Necker-Enfants malades, AP-HP, université Paris-Cité, Inserm U1016, Institut Imagine, Paris, France.; Cheillan D

Subjects: Neonatal Screening* ; Deafness*; Infant

  • Source: La Revue du praticien [Rev Prat] 2023 Dec; Vol. 73 (10), pp. 1119-1123.Publisher: J.-B. Baillière Country of Publication: France NLM ID: 0404334 Publication Model: Print Cited Medium: Internet ISSN: 2101-017X

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Academic Journal

A literature review on the redundancy of additional thyroid function tests in neonates of mothers with hypothyroidism.

Subjects: Thyroid Function Tests* ; Neonatal Screening*/Neonatal Screening*/Neonatal Screening*/methods ; Congenital Hypothyroidism*/Congenital Hypothyroidism*/Congenital Hypothyroidism*/diagnosis

  • Source: Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2024 Jun; Vol. 113 (6), pp. 1221-1227. Date of Electronic Publication: 2024 Jan 10.Publisher: Wiley-Blackwell Country of Publication: Norway NLM ID: 9205968 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Hearing Assessment in Infants, Children, and Adolescents: Recommendations Beyond Neonatal Screening.

Subjects: Neonatal Screening* ; Physical Examination*; Infant, Newborn

  • Source: Pediatrics [Pediatrics] 2023 Sep 01; Vol. 152 (3).Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Current status and challenges in prenatal and neonatal screening, diagnosis, and management of congenital heart disease in China.

  • Authors : Zhang Y; Maternal-Fetal Medicine Centre in Fetal Heart Disease, Beijing Anzhen Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of Maternal-Fetal Medicine in Fetal Heart Disease, Beijing, China

Subjects: Neonatal Screening* ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/diagnosis ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/therapy

  • Source: The Lancet. Child & adolescent health [Lancet Child Adolesc Health] 2023 Jul; Vol. 7 (7), pp. 479-489. Date of Electronic Publication: 2023 Jun 07.Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101712925 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  57,666 results for ""Neonatal Screening""