100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.

Gabriele Ramoser; Federica Caferri; Bernhard Radlinger; Michaela Brunner-Krainz; Sybille Herbst; Martina Huemer; Miriam Hufgard-Leitner; Susanne G Kircher; Vassiliki Konstantopoulou; Wolfgang Löscher; Dorothea Möslinger; Barbara Plecko; Johannes Spenger; Thomas Stulnig; Gere Sunder-Plassmann; Saskia Wortmann; Sabine Scholl-Bürgi; Daniela Karall

doi:10.1002/jimd.12442

100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.

Gabriele Ramoser, Federica Caferri, Bernhard Radlinger, Michaela Brunner-Krainz, Sybille Herbst, Martina Huemer, Miriam Hufgard-Leitner, Susanne G Kircher, Vassiliki Konstantopoulou, Wolfgang Löscher, Dorothea Möslinger, Barbara Plecko, Johannes Spenger (Co-author), Thomas Stulnig, Gere Sunder-Plassmann, Saskia Wortmann (Co-author), Sabine Scholl-Bürgi, Daniela Karall

Department of Pediatrics

Research output: Contribution to journal › Original Article (Journal) › peer-review

7 Citations (Web of Science)

Original language	English
Pages (from-to)	144-156
Journal	JOURNAL OF INHERITED METABOLIC DISEASE
Volume	45
Issue number	2
DOIs	https://doi.org/10.1002/jimd.12442
Publication status	Published - 2022

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Ramoser, G., Caferri, F., Radlinger, B., Brunner-Krainz, M., Herbst, S., Huemer, M., Hufgard-Leitner, M., Kircher, S. G., Konstantopoulou, V., Löscher, W., Möslinger, D., Plecko, B., Spenger, J., Stulnig, T., Sunder-Plassmann, G., Wortmann, S., Scholl-Bürgi, S., & Karall, D. (2022). 100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021. JOURNAL OF INHERITED METABOLIC DISEASE , 45(2), 144-156. https://doi.org/10.1002/jimd.12442

Ramoser, Gabriele ; Caferri, Federica ; Radlinger, Bernhard et al. / 100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021. In: JOURNAL OF INHERITED METABOLIC DISEASE 2022 ; Vol. 45, No. 2. pp. 144-156.

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title = "100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.",

author = "Gabriele Ramoser and Federica Caferri and Bernhard Radlinger and Michaela Brunner-Krainz and Sybille Herbst and Martina Huemer and Miriam Hufgard-Leitner and Kircher, {Susanne G} and Vassiliki Konstantopoulou and Wolfgang L{\"o}scher and Dorothea M{\"o}slinger and Barbara Plecko and Johannes Spenger and Thomas Stulnig and Gere Sunder-Plassmann and Saskia Wortmann and Sabine Scholl-B{\"u}rgi and Daniela Karall",

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Ramoser, G, Caferri, F, Radlinger, B, Brunner-Krainz, M, Herbst, S, Huemer, M, Hufgard-Leitner, M, Kircher, SG, Konstantopoulou, V, Löscher, W, Möslinger, D, Plecko, B, Spenger, J, Stulnig, T, Sunder-Plassmann, G, Wortmann, S, Scholl-Bürgi, S & Karall, D 2022, '100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.', JOURNAL OF INHERITED METABOLIC DISEASE , vol. 45, no. 2, pp. 144-156. https://doi.org/10.1002/jimd.12442

100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021. / Ramoser, Gabriele; Caferri, Federica; Radlinger, Bernhard et al.
In: JOURNAL OF INHERITED METABOLIC DISEASE , Vol. 45, No. 2, 2022, p. 144-156.

Research output: Contribution to journal › Original Article (Journal) › peer-review

TY - JOUR

T1 - 100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.

AU - Ramoser, Gabriele

AU - Caferri, Federica

AU - Radlinger, Bernhard

AU - Brunner-Krainz, Michaela

AU - Herbst, Sybille

AU - Huemer, Martina

AU - Hufgard-Leitner, Miriam

AU - Kircher, Susanne G

AU - Konstantopoulou, Vassiliki

AU - Löscher, Wolfgang

AU - Möslinger, Dorothea

AU - Plecko, Barbara

AU - Spenger, Johannes

AU - Stulnig, Thomas

AU - Sunder-Plassmann, Gere

AU - Wortmann, Saskia

AU - Scholl-Bürgi, Sabine

AU - Karall, Daniela

N1 - Wortmann; Spenger: Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University Salzburg, Salzburg, Austria

PY - 2022

Y1 - 2022

U2 - 10.1002/jimd.12442

DO - 10.1002/jimd.12442

M3 - Original Article (Journal)

C2 - 34595757

SN - 0141-8955

VL - 45

SP - 144

EP - 156

JO - JOURNAL OF INHERITED METABOLIC DISEASE

JF - JOURNAL OF INHERITED METABOLIC DISEASE

IS - 2

ER -

Ramoser G, Caferri F, Radlinger B, Brunner-Krainz M, Herbst S, Huemer M et al. 100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021. JOURNAL OF INHERITED METABOLIC DISEASE . 2022;45(2):144-156. doi: 10.1002/jimd.12442