Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

JC Bleeker; IL Kok; S Ferdinandusse; WL van der Pol; I Cuppen; AM Bosch; M Langeveld; TGJ Derks; Monique Williams; M Boersma - de Vries; MF (Margot) Mulder; ER Gozalbo; MGM de Sain-van der Velden; AJM Rennings; P Schielen; E Dekkers; RH Houtkooper; HR Waterham; ML Pras-Raves; RJA Wanders; PM van Hasselt; M Schoenmakers; FA Wijburg; G Visser

doi:10.1002/jimd.12075

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

JC Bleeker, IL Kok, S Ferdinandusse, WL van der Pol, I Cuppen, AM Bosch, M Langeveld, TGJ Derks, Monique Williams, M Boersma - de Vries, MF (Margot) Mulder, ER Gozalbo, MGM de Sain-van der Velden, AJM Rennings, P Schielen, E Dekkers, RH Houtkooper, HR Waterham, ML Pras-Raves, RJA WandersPM van Hasselt, M Schoenmakers, FA Wijburg, G Visser

Pediatrics

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

31 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	414-423
Number of pages	10
Journal	Journal of Inherited Metabolic Disease
Volume	42
Issue number	3
DOIs	https://doi.org/10.1002/jimd.12075
Publication status	Published - 2019

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10.1002/jimd.12075

Cite this

Bleeker, JC., Kok, IL., Ferdinandusse, S., van der Pol, WL., Cuppen, I., Bosch, AM., Langeveld, M., Derks, TGJ., Williams, M., Boersma - de Vries, M., Mulder, MF., Gozalbo, ER., de Sain-van der Velden, MGM., Rennings, AJM., Schielen, P., Dekkers, E., Houtkooper, RH., Waterham, HR., Pras-Raves, ML., ... Visser, G. (2019). Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes. Journal of Inherited Metabolic Disease, 42(3), 414-423. https://doi.org/10.1002/jimd.12075

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title = "Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes",

author = "JC Bleeker and IL Kok and S Ferdinandusse and {van der Pol}, WL and I Cuppen and AM Bosch and M Langeveld and TGJ Derks and Monique Williams and {Boersma - de Vries}, M and Mulder, {MF (Margot)} and ER Gozalbo and {de Sain-van der Velden}, MGM and AJM Rennings and P Schielen and E Dekkers and RH Houtkooper and HR Waterham and ML Pras-Raves and RJA Wanders and {van Hasselt}, PM and M Schoenmakers and FA Wijburg and G Visser",

year = "2019",

doi = "10.1002/jimd.12075",

language = "Undefined/Unknown",

volume = "42",

pages = "414--423",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

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Bleeker, JC, Kok, IL, Ferdinandusse, S, van der Pol, WL, Cuppen, I, Bosch, AM, Langeveld, M, Derks, TGJ, Williams, M, Boersma - de Vries, M, Mulder, MF, Gozalbo, ER, de Sain-van der Velden, MGM, Rennings, AJM, Schielen, P, Dekkers, E, Houtkooper, RH, Waterham, HR, Pras-Raves, ML, Wanders, RJA, van Hasselt, PM, Schoenmakers, M, Wijburg, FA & Visser, G 2019, 'Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes', Journal of Inherited Metabolic Disease, vol. 42, no. 3, pp. 414-423. https://doi.org/10.1002/jimd.12075

TY - JOUR

T1 - Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

AU - Bleeker, JC

AU - Kok, IL

AU - Ferdinandusse, S

AU - van der Pol, WL

AU - Cuppen, I

AU - Bosch, AM

AU - Langeveld, M

AU - Derks, TGJ

AU - Williams, Monique

AU - Boersma - de Vries, M

AU - Mulder, MF (Margot)

AU - Gozalbo, ER

AU - de Sain-van der Velden, MGM

AU - Rennings, AJM

AU - Schielen, P

AU - Dekkers, E

AU - Houtkooper, RH

AU - Waterham, HR

AU - Pras-Raves, ML

AU - Wanders, RJA

AU - van Hasselt, PM

AU - Schoenmakers, M

AU - Wijburg, FA

AU - Visser, G

PY - 2019

Y1 - 2019

U2 - 10.1002/jimd.12075

DO - 10.1002/jimd.12075

M3 - Article

SN - 0141-8955

VL - 42

SP - 414

EP - 423

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 3

ER -