Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: Data from a cohort study

CML Touw; GPA Smit; M Vries; Hans Klerk; AM Bosch; G Visser; MF (Margot) Mulder; ME Rubio-Gozalbo; B Elvers; KE Niezen-Koning; RJA Wanders; HR Waterham; DJ Reijngoud; TGJ Derks

doi:10.1186/1750-1172-7-30

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: Data from a cohort study

CML Touw, GPA Smit, M Vries, Hans Klerk, AM Bosch, G Visser, MF (Margot) Mulder, ME Rubio-Gozalbo, B Elvers, KE Niezen-Koning, RJA Wanders, HR Waterham, DJ Reijngoud, TGJ Derks

Pediatrics

Research output: Contribution to journal › Article › Academic › peer-review

25 Citations (Scopus)

11 Downloads (Pure)

Original language	Undefined/Unknown
Pages (from-to)	30
Journal	Orphanet Journal of Rare Diseases
Volume	7
DOIs	https://doi.org/10.1186/1750-1172-7-30
Publication status	Published - 2012

Research programs

EMC MM-01-54-01

Access to Document

10.1186/1750-1172-7-30

REPUB_60857_OA.pdfFinal published version, 469 KB

http://hdl.handle.net/1765/60857

Cite this

Touw, CML., Smit, GPA., Vries, M., Klerk, H., Bosch, AM., Visser, G., Mulder, MF., Rubio-Gozalbo, ME., Elvers, B., Niezen-Koning, KE., Wanders, RJA., Waterham, HR., Reijngoud, DJ., & Derks, TGJ. (2012). Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: Data from a cohort study. Orphanet Journal of Rare Diseases, 7, 30. https://doi.org/10.1186/1750-1172-7-30

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author = "CML Touw and GPA Smit and M Vries and Hans Klerk and AM Bosch and G Visser and Mulder, {MF (Margot)} and ME Rubio-Gozalbo and B Elvers and KE Niezen-Koning and RJA Wanders and HR Waterham and DJ Reijngoud and TGJ Derks",

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Touw, CML, Smit, GPA, Vries, M, Klerk, H, Bosch, AM, Visser, G, Mulder, MF, Rubio-Gozalbo, ME, Elvers, B, Niezen-Koning, KE, Wanders, RJA, Waterham, HR, Reijngoud, DJ & Derks, TGJ 2012, 'Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: Data from a cohort study', Orphanet Journal of Rare Diseases, vol. 7, pp. 30. https://doi.org/10.1186/1750-1172-7-30

TY - JOUR

T1 - Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: Data from a cohort study

AU - Touw, CML

AU - Smit, GPA

AU - Vries, M

AU - Klerk, Hans

AU - Bosch, AM

AU - Visser, G

AU - Mulder, MF (Margot)

AU - Rubio-Gozalbo, ME

AU - Elvers, B

AU - Niezen-Koning, KE

AU - Wanders, RJA

AU - Waterham, HR

AU - Reijngoud, DJ

AU - Derks, TGJ

PY - 2012

Y1 - 2012

U2 - 10.1186/1750-1172-7-30

DO - 10.1186/1750-1172-7-30

M3 - Article

C2 - 22630369

SN - 1750-1172

VL - 7

SP - 30

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

ER -