Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

S Malvagia; L Papi; A Morrone; MA Donati; F Ciani; E Pasquini; G la Marca; Jasper Scholte; M Genuardi; E Zammarchi

doi:10.1111/j.1469-1809.2007.00373.x

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

S Malvagia, L Papi, A Morrone, MA Donati, F Ciani, E Pasquini, G la Marca, Jasper Scholte, M Genuardi, E Zammarchi

Biochemistry

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

19 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	705-712
Number of pages	8
Journal	Annals of Human Genetics
Volume	71
DOIs	https://doi.org/10.1111/j.1469-1809.2007.00373.x
Publication status	Published - 2007

Research programs

EMC MGC-02-21-01

Access to Document

10.1111/j.1469-1809.2007.00373.x

http://hdl.handle.net/1765/35129

Cite this

@article{83803b10ccc54166811c1e6bcecdb58a,

title = "Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16",

author = "S Malvagia and L Papi and A Morrone and MA Donati and F Ciani and E Pasquini and {la Marca}, G and Jasper Scholte and M Genuardi and E Zammarchi",

year = "2007",

doi = "10.1111/j.1469-1809.2007.00373.x",

language = "Undefined/Unknown",

volume = "71",

pages = "705--712",

journal = "Annals of Human Genetics",

issn = "0003-4800",

publisher = "Wiley-Blackwell Publishing Ltd",

}

TY - JOUR

T1 - Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

AU - Malvagia, S

AU - Papi, L

AU - Morrone, A

AU - Donati, MA

AU - Ciani, F

AU - Pasquini, E

AU - la Marca, G

AU - Scholte, Jasper

AU - Genuardi, M

AU - Zammarchi, E

PY - 2007

Y1 - 2007

U2 - 10.1111/j.1469-1809.2007.00373.x

DO - 10.1111/j.1469-1809.2007.00373.x

M3 - Article

SN - 0003-4800

VL - 71

SP - 705

EP - 712

JO - Annals of Human Genetics

JF - Annals of Human Genetics

ER -