Works matching IS 2409515X AND DT 2021 AND VI 7 AND IP 2

Results: 12

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020032
By:
- Spenger, Johannes;
- Maier, Esther M.;
- Wechselberger, Katharina;
- Bauder, Florian;
- Kocher, Melanie;
- Sperl, Wolfgang;
- Preisel, Martin;
- Schiergens, Katharina A.;
- Konstantopoulou, Vassiliki;
- Röschinger, Wulf;
- Häberle, Johannes;
- Schmitt-Mechelke, Thomas;
- Wortmann, Saskia B.;
- Fingerhut, Ralph
Publication type:
Article
The Editor's Choice for Issue 1, Volume 7.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020031
By:
- Millington, David S.
Publication type:
Article
Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020030
By:
- Padilla, Carmencita D.;
- Therrell Jr., Bradford L.;
- Alcausin, Maria Melanie Liberty B.;
- de Castro Jr., Reynaldo C.;
- P. Gepte, Maria Beatriz;
- L. Reyes, Maria Elouisa;
- Jomento, Charity M.;
- N. Suarez, Riza Concordia;
- Maceda, Ebner Bon G.;
- Abarquez, Conchita G.;
- C. Posecion, J. Edgar Winston;
- Andal, Alma P.;
- G. Elizaga, Anna Lea;
- Halili-Mendoza, Bernadette C.;
- Virginia K. Otayza, Maria Paz;
- Hoppe, Carolyn C.
Publication type:
Article
First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020029
By:
- Tsevgee, Altantuya;
- Khishigjargal Batjargal;
- Munkhchuluun, Tsolmon;
- Khurelbaatar, Naranchimeg;
- Nansal, Gerelmaa;
- Bulgan, Oyun-Erdene;
- Nyamjav, Sumberzul;
- Zagd, Gerelmaa;
- Ganbaatar, Erdenetuya
Publication type:
Article
Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020028
By:
- Corre, Camille S.;
- Matern, Dietrich;
- Pellegrino, Joan E.;
- Saavedra-Matiz, Carlos A.;
- Orsini, Joseph J.;
- Thompson-Stone, Robert
Publication type:
Article
Re-Evaluation of the Prevalence of Permanent Congenital Hypothyroidism in Niigata, Japan: A Retrospective Study.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020027
By:
- Keisuke Nagasaki;
- Hidetoshi Sato;
- Sunao Sasaki;
- Hiromi Nyuzuki;
- Nao Shibata;
- Kentaro Sawano;
- Shota Hiroshima;
- Tadashi Asami
Publication type:
Article
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020026
By:
- Hale, Jaime E.;
- Darras, Basil T.;
- Swoboda, Kathryn J.;
- Estrella, Elicia;
- Jin Yun Helen Chen;
- Abbott, Mary-Alice;
- Hay, Beverly N.;
- Kumar, Binod;
- Counihan, Anne M.;
- Gerstel-Thompson, Jacalyn;
- Sahai, Inderneel;
- Eaton, Roger B.;
- Comeau, Anne Marie
Publication type:
Article
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020025
By:
- Sajeev, Mona;
- Sharon Chin;
- Gladys Ho;
- Bennetts, Bruce;
- Sankaran, Bindu Parayil;
- Gutierrez, Bea;
- Devanapalli, Beena;
- Tolun, Adviye Ayper;
- Wiley, Veronica;
- Fletcher, Janice;
- Fuller, Maria;
- Balasubramaniam, Shanti
Publication type:
Article
Newborn Screening for Krabbe Disease--Illinois Experience: Role of Psychosine in Diagnosis of the Disease.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020024
By:
- Basheeruddin, Khaja;
- Rong Shao;
- Balster, Fran;
- Gardley, Pearlie;
- Ashbaugh, Laura
Publication type:
Article
A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020023
By:
- Rowe, Alexander D.;
- Stoway, Stephanie D.;
- Åhlman, Henrik;
- Arora, Vaneet;
- Caggana, Michele;
- Fornari, Anna;
- Hagar, Arthur;
- Hall, Patricia L.;
- Marquardt, Gregg C.;
- Miller, Bobby J.;
- Nixon, Christopher;
- Norgan, Andrew P.;
- Orsini, Joseph J.;
- Pettersen, Rolf D.;
- Piazza, Amy L.;
- Schubauer, Neil R.;
- Smith, Amy C.;
- Hao Tang;
- Tavakoli, Norma P.;
- Sainan Wei
Publication type:
Article
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020022
By:
- Matteson, Jamie;
- Sciortino, Stanley;
- Feuchtbaum, Lisa;
- Bishop, Tracey;
- Olney, Richard S.;
- Hao Tang
Publication type:
Article
Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020021
By:
- Kenji Yamada;
- Seiji Yamaguchi;
- Kazunori Yokoyama;
- Kikumaro Aoki;
- Takeshi Taketani
Publication type:
Article