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Propionic acidemia: neonatal versus selective metabolic screening.

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Propionic acidemia: neonatal versus selective metabolic screening. / Grünert, S C; Müllerleile, S; de Silva, L; Barth, M; Walter, M; Walter, K; Meissner, T; Lindner, M; Ensenauer, R; Santer, René; Bodamer, O A; Baumgartner, M R; Brunner-Krainz, M; Karall, D; Haase, C; Knerr, I; Marquardt, T; Hennermann, J B; Steinfeld, R; Beblo, S; Koch, H G; Konstantopoulou, V; Scholl-Bürgi, S; van Teeffelen-Heithoff, A; Suormala, T; Sperl, W; Kraus, J P; Superti-Furga, A; Schwab, K O; Sass, J O.

In: J INHERIT METAB DIS, Vol. 35, No. 1, 1, 2012, p. 41-49.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Grünert, SC, Müllerleile, S, de Silva, L, Barth, M, Walter, M, Walter, K, Meissner, T, Lindner, M, Ensenauer, R, Santer, R, Bodamer, OA, Baumgartner, MR, Brunner-Krainz, M, Karall, D, Haase, C, Knerr, I, Marquardt, T, Hennermann, JB, Steinfeld, R, Beblo, S, Koch, HG, Konstantopoulou, V, Scholl-Bürgi, S, van Teeffelen-Heithoff, A, Suormala, T, Sperl, W, Kraus, JP, Superti-Furga, A, Schwab, KO & Sass, JO 2012, 'Propionic acidemia: neonatal versus selective metabolic screening.', J INHERIT METAB DIS, vol. 35, no. 1, 1, pp. 41-49. <http://www.ncbi.nlm.nih.gov/pubmed/22134541?dopt=Citation>

APA

Grünert, S. C., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., ... Sass, J. O. (2012). Propionic acidemia: neonatal versus selective metabolic screening. J INHERIT METAB DIS, 35(1), 41-49. [1]. http://www.ncbi.nlm.nih.gov/pubmed/22134541?dopt=Citation

Vancouver

Grünert SC, Müllerleile S, de Silva L, Barth M, Walter M, Walter K et al. Propionic acidemia: neonatal versus selective metabolic screening. J INHERIT METAB DIS. 2012;35(1):41-49. 1.

Bibtex

@article{04e61d5f2c744590aa9014d79cc187f8,
title = "Propionic acidemia: neonatal versus selective metabolic screening.",
abstract = "Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on the benefit of NBS for PA are sparse.",
keywords = "Germany, Humans, Male, Female, Adolescent, Questionnaires, Child, Child, Preschool, Infant, Retrospective Studies, Infant, Newborn, Switzerland, Austria, Outpatients, Intelligence Tests, Neonatal Screening/*methods, Propionic Acidemia/*diagnosis, Germany, Humans, Male, Female, Adolescent, Questionnaires, Child, Child, Preschool, Infant, Retrospective Studies, Infant, Newborn, Switzerland, Austria, Outpatients, Intelligence Tests, Neonatal Screening/*methods, Propionic Acidemia/*diagnosis",
author = "Gr{\"u}nert, {S C} and S M{\"u}llerleile and {de Silva}, L and M Barth and M Walter and K Walter and T Meissner and M Lindner and R Ensenauer and Ren{\'e} Santer and Bodamer, {O A} and Baumgartner, {M R} and M Brunner-Krainz and D Karall and C Haase and I Knerr and T Marquardt and Hennermann, {J B} and R Steinfeld and S Beblo and Koch, {H G} and V Konstantopoulou and S Scholl-B{\"u}rgi and {van Teeffelen-Heithoff}, A and T Suormala and W Sperl and Kraus, {J P} and A Superti-Furga and Schwab, {K O} and Sass, {J O}",
year = "2012",
language = "English",
volume = "35",
pages = "41--49",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "1",

}

RIS

TY - JOUR

T1 - Propionic acidemia: neonatal versus selective metabolic screening.

AU - Grünert, S C

AU - Müllerleile, S

AU - de Silva, L

AU - Barth, M

AU - Walter, M

AU - Walter, K

AU - Meissner, T

AU - Lindner, M

AU - Ensenauer, R

AU - Santer, René

AU - Bodamer, O A

AU - Baumgartner, M R

AU - Brunner-Krainz, M

AU - Karall, D

AU - Haase, C

AU - Knerr, I

AU - Marquardt, T

AU - Hennermann, J B

AU - Steinfeld, R

AU - Beblo, S

AU - Koch, H G

AU - Konstantopoulou, V

AU - Scholl-Bürgi, S

AU - van Teeffelen-Heithoff, A

AU - Suormala, T

AU - Sperl, W

AU - Kraus, J P

AU - Superti-Furga, A

AU - Schwab, K O

AU - Sass, J O

PY - 2012

Y1 - 2012

N2 - Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on the benefit of NBS for PA are sparse.

AB - Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on the benefit of NBS for PA are sparse.

KW - Germany

KW - Humans

KW - Male

KW - Female

KW - Adolescent

KW - Questionnaires

KW - Child

KW - Child, Preschool

KW - Infant

KW - Retrospective Studies

KW - Infant, Newborn

KW - Switzerland

KW - Austria

KW - Outpatients

KW - Intelligence Tests

KW - Neonatal Screening/methods

KW - Propionic Acidemia/diagnosis

KW - Germany

KW - Humans

KW - Male

KW - Female

KW - Adolescent

KW - Questionnaires

KW - Child

KW - Child, Preschool

KW - Infant

KW - Retrospective Studies

KW - Infant, Newborn

KW - Switzerland

KW - Austria

KW - Outpatients

KW - Intelligence Tests

KW - Neonatal Screening/methods

KW - Propionic Acidemia/diagnosis

M3 - SCORING: Journal article

VL - 35

SP - 41

EP - 49

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 1

M1 - 1

ER -