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Academic Journal

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.

  • Authors : Mechtler TP; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Stary S

Subjects: Neonatal Screening*; Lysosomal Storage Diseases/Lysosomal Storage Diseases/Lysosomal Storage Diseases/*diagnosis; Austria/Austria/Austria/epidemiology

  • Source: Lancet (London, England) [Lancet] 2012 Jan 28; Vol. 379 (9813), pp. 335-41. Date of Electronic Publication: 2011 Nov 29.Publisher: Elsevier Country of Publication: England NLM ID: 2985213R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-547X

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Academic Journal

[Neonatal screening for congenital hypothyroidism].

  • Authors : Möslinger D; Osterreichischen Früherfassungsprogramm für Angeborene Stoffwechselerkrankungen, Universitätsklinik für Kinder- und Jugendheilkunde, Wien.; Frisch H

Subjects: Congenital Hypothyroidism* ; Neonatal Screening*; Adolescent

  • Source: Acta medica Austriaca [Acta Med Austriaca] 1997; Vol. 24 (4), pp. 162-4.Publisher: Springer Verlag Country of Publication: Austria NLM ID: 7501997 Publication Model: Print Cited Medium: Print

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Academic Journal

The cost-effectiveness of neonatal versus prenatal screening for congenital toxoplasmosis.

  • Authors : Binquet C; INSERM, CIC1432, Module Epidémiologie Clinique, Dijon, France.; Centre Hospitalier Universitaire Dijon-Bourgogne, Centre d'investigation Clinique, Module Épidémiologie Clinique/ Essais Cliniques, Dijon, France.

Subjects: Cost-Benefit Analysis/Cost-Benefit Analysis/Cost-Benefit Analysis/*methods ; Neonatal Screening/Neonatal Screening/Neonatal Screening/*economics ; Prenatal Diagnosis/Prenatal Diagnosis/Prenatal Diagnosis/*economics

  • Source: PloS one [PLoS One] 2019 Sep 18; Vol. 14 (9), pp. e0221709. Date of Electronic Publication: 2019 Sep 18 (Print Publication: 2019).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

[Newborn screening as a predictive genetic test: principles and challenges].

  • Authors : Zschocke J; Division für Humangenetik, Medizinische Universität Innsbruck, Innsbruck, Austria.

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/ethics ; Neonatal Screening*/Neonatal Screening*/Neonatal Screening*/ethics; Metabolism, Inborn Errors/Metabolism, Inborn Errors/Metabolism, Inborn Errors/*diagnosis

  • Source: Wiener medizinische Wochenschrift (1946) [Wien Med Wochenschr] 2012 Apr; Vol. 162 (7-8), pp. 168-75. Date of Electronic Publication: 2012 Mar 28.Publisher: Springer Verlag Country of Publication: Austria NLM ID: 8708475 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria.

  • Authors : Ramsebner R; Department of Otorhinolaryngology, Medical University of Vienna, Austria.; Volker R

Subjects: Neonatal Screening*; Connexins/Connexins/Connexins/*genetics ; Hearing Disorders/Hearing Disorders/Hearing Disorders/*epidemiology

  • Source: Ear and hearing [Ear Hear] 2007 Jun; Vol. 28 (3), pp. 298-301.Publisher: Williams And Wilkins Country of Publication: United States NLM ID: 8005585 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

Ten-year outcome of newborn hearing screening in Austria.

  • Authors : Weichbold V; Clinical Department of Hearing, Voice and Speech Disorders, Innsbruck Medical University, Austria. ; Nekahm-Heis D

Subjects: Hearing Loss/Hearing Loss/Hearing Loss/*diagnosis ; Neonatal Screening/Neonatal Screening/Neonatal Screening/*methods; Austria

  • Source: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2006 Feb; Vol. 70 (2), pp. 235-40. Date of Electronic Publication: 2005 Aug 08.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Print

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Academic Journal

Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.

  • Authors : Item C; Department of Pediatrics, University of Vienna, Austria.; Hagerty BP

Subjects: Mutation* ; Neonatal Screening*; Galactosemias/Galactosemias/Galactosemias/*diagnosis

  • Source: Pediatric research [Pediatr Res] 2002 Apr; Vol. 51 (4), pp. 511-6.Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

[Routine examination of the term newborn infant].

  • Authors : Rosegger H; Klinische Abteilung für Neonatologie, Peripartale Pädiatrie (an der Frauenklinik), Universitätsklinik für Kinder- und Jugendheilkunde, Auenbruggerplatz 14-36, A-8036 Graz.

Subjects: Neonatal Screening*; Congenital Abnormalities/Congenital Abnormalities/Congenital Abnormalities/*diagnosis ; Infant, Newborn, Diseases/Infant, Newborn, Diseases/Infant, Newborn, Diseases/*diagnosis

  • Source: Wiener medizinische Wochenschrift (1946) [Wien Med Wochenschr] 2002; Vol. 152 (1-2), pp. 31-5.Publisher: Springer Verlag Country of Publication: Austria NLM ID: 8708475 Publication Model: Print Cited Medium: Print

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Academic Journal

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.

Subjects: Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/diagnosis ; Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/drug therapy ; Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/epidemiology

  • Source: European journal of pediatrics [Eur J Pediatr] 2001 May; Vol. 160 (5), pp. 277-82.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print Cited Medium: Print ISSN: 0340-6199 (Print)

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Academic Journal

Examples of implemented neonatal hearing screening programs in Austria.

Subjects: Neonatal Screening*; Hearing Disorders/Hearing Disorders/Hearing Disorders/*diagnosis ; Hearing Disorders/Hearing Disorders/Hearing Disorders/*epidemiology

  • Source: Scandinavian audiology. Supplementum [Scand Audiol Suppl] 2001 (52), pp. 7-9.Publisher: Nordisk Audiologisk Selskab Country of Publication: Denmark NLM ID: 0325221 Publication Model: Print Cited Medium: Print ISSN:

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  • 1-10 of  67 results for ""Neonatal Screening""