Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients

C Chapel-Crespo; D Gavrilov; M Sowa; J Myers; DL Day-Salvatore; H Lynne; D Regier; D Starin; M Steenari; Kees Schoonderwoerd; JE Abdenur

doi:10.1016/j.ymgme.2019.07.015

Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients

C Chapel-Crespo, D Gavrilov, M Sowa, J Myers, DL Day-Salvatore, H Lynne, D Regier, D Starin, M Steenari, Kees Schoonderwoerd, JE Abdenur

Clinical Genetics

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

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Original language	Undefined/Unknown
Pages (from-to)	113-121
Number of pages	9
Journal	Molecular Genetics and Metabolism
Volume	128
Issue number	1-2
DOIs	https://doi.org/10.1016/j.ymgme.2019.07.015
Publication status	Published - 2019

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EMC OR-01

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10.1016/j.ymgme.2019.07.015

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Chapel-Crespo, C., Gavrilov, D., Sowa, M., Myers, J., Day-Salvatore, DL., Lynne, H., Regier, D., Starin, D., Steenari, M., Schoonderwoerd, K., & Abdenur, JE. (2019). Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients. Molecular Genetics and Metabolism, 128(1-2), 113-121. https://doi.org/10.1016/j.ymgme.2019.07.015

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Chapel-Crespo, C, Gavrilov, D, Sowa, M, Myers, J, Day-Salvatore, DL, Lynne, H, Regier, D, Starin, D, Steenari, M, Schoonderwoerd, K & Abdenur, JE 2019, 'Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients', Molecular Genetics and Metabolism, vol. 128, no. 1-2, pp. 113-121. https://doi.org/10.1016/j.ymgme.2019.07.015

TY - JOUR

T1 - Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients

AU - Chapel-Crespo, C

AU - Gavrilov, D

AU - Sowa, M

AU - Myers, J

AU - Day-Salvatore, DL

AU - Lynne, H

AU - Regier, D

AU - Starin, D

AU - Steenari, M

AU - Schoonderwoerd, Kees

AU - Abdenur, JE

PY - 2019

Y1 - 2019

U2 - 10.1016/j.ymgme.2019.07.015

DO - 10.1016/j.ymgme.2019.07.015

M3 - Article

C2 - 31395333

SN - 1096-7192

VL - 128

SP - 113

EP - 121

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 1-2

ER -