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Neonatal carnitine concentrations in relation to gestational age and weight.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 95, doi. 10.1002/jmd2.12162
By:
- Crefcoeur, Loek L.;
- Sain‐van der Velden, Monique G. M.;
- Ferdinandusse, Sacha;
- Langeveld, Mirjam;
- Maase, Rose;
- Vaz, Frédéric M.;
- Visser, Gepke;
- Wanders, Ronald J.A.;
- Wijburg, Frits A.;
- Verschoof‐Puite, Rendelien K.;
- Schielen, Peter C. J. I.
Publication type:
Article
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 116, doi. 10.1002/jimd.12571
By:
- Albersen, Monique;
- van der Beek, Samantha L.;
- Dijkstra, Inge M. E.;
- Alders, Mariëlle;
- Barendsen, Rinse W.;
- Bliek, Jet;
- Boelen, Anita;
- Ebberink, Merel S.;
- Ferdinandusse, Sacha;
- Goorden, Susan M. I.;
- Heijboer, Annemieke C.;
- Jansen, Mandy;
- Jaspers, Yorrick R. J.;
- Metgod, Ingrid;
- Salomons, Gajja S.;
- Vaz, Frédéric M.;
- Verschoof‐Puite, Rendelien K.;
- Visser, Wouter F.;
- Dekkers, Eugènie;
- Engelen, Marc
Publication type:
Article
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 804, doi. 10.1002/jimd.12502
By:
- Schwantje, Marit;
- Fuchs, Sabine A.;
- de Boer, Lonneke;
- Bosch, Annet M.;
- Cuppen, Inge;
- Dekkers, Eugenie;
- Derks, Terry G. J.;
- Ferdinandusse, Sacha;
- Ijlst, Lodewijk;
- Houtkooper, Riekelt H.;
- Maase, Rose;
- van der Pol, W. Ludo;
- de Vries, Maaike C.;
- Verschoof‐Puite, Rendelien K.;
- Wanders, Ronald J. A.;
- Williams, Monique;
- Wijburg, Frits;
- Visser, Gepke
Publication type:
Article
Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents.
Published in:
International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 18, doi. 10.3390/ijns10010018
By:
- van den Heuvel, Lieke M.;
- van der Pal, Sylvia M.;
- Verschoof-Puite, Rendelien K.;
- Klapwijk, Jasmijn E.;
- Elsinghorst, Ellen;
- Dekkers, Eugènie;
- van der Ploeg, Catharina P. B.;
- Henneman, Lidewij
Publication type:
Article
Parents' views on accepting, declining, and expanding newborn bloodspot screening.
Published in:
PLoS ONE, 2022, v. 17, n. 8, p. 1, doi. 10.1371/journal.pone.0272585
By:
- van der Pal, Sylvia M.;
- Wins, Sophie;
- Klapwijk, Jasmijn E.;
- van Dijk, Tessa;
- Kater-Kuipers, Adriana;
- van der Ploeg, Catharina P. B.;
- Jans, Suze M. P. J.;
- Kemp, Stephan;
- Verschoof-Puite, Rendelien K.;
- van den Bosch, Lion J. M.;
- Henneman, Lidewij
Publication type:
Article

Found: 5

Neonatal carnitine concentrations in relation to gestational age and weight.

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy.

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.

Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents.

Parents' views on accepting, declining, and expanding newborn bloodspot screening.