Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations

RR Kapoor; SE Flanagan; P Fulton; A Chakrapani; B Chadefaux; T Ben-Omran; I Banerjee; JPH Shield; S Ellard; K Hussain

doi:10.1530/EJE-09-0615

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations

RR Kapoor, SE Flanagan, P Fulton, A Chakrapani, B Chadefaux, T Ben-Omran, I Banerjee, JPH Shield, S Ellard, K Hussain

Bristol Medical School (THS)

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

91 Citations (Scopus)

Translated title of the contribution	Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations
Original language	English
Pages (from-to)	731 - 735
Number of pages	5
Journal	European Journal of Endocrinology
Volume	161(5)
DOIs	https://doi.org/10.1530/EJE-09-0615
Publication status	Published - Nov 2009

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@article{2c147b6ea4704ceabc1fb318ebdca8b4,

title = "Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations",

author = "RR Kapoor and SE Flanagan and P Fulton and A Chakrapani and B Chadefaux and T Ben-Omran and I Banerjee and JPH Shield and S Ellard and K Hussain",

year = "2009",

month = nov,

doi = "10.1530/EJE-09-0615",

language = "English",

volume = "161(5)",

pages = "731 -- 735",

journal = "European Journal of Endocrinology",

issn = "1479-683X",

publisher = "Oxford University Press",

}

TY - JOUR

T1 - Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations

AU - Kapoor, RR

AU - Flanagan, SE

AU - Fulton, P

AU - Chakrapani, A

AU - Chadefaux, B

AU - Ben-Omran, T

AU - Banerjee, I

AU - Shield, JPH

AU - Ellard, S

AU - Hussain, K

PY - 2009/11

Y1 - 2009/11

U2 - 10.1530/EJE-09-0615

DO - 10.1530/EJE-09-0615

M3 - Article (Academic Journal)

C2 - 19690084

SN - 1479-683X

VL - 161(5)

SP - 731

EP - 735

JO - European Journal of Endocrinology

JF - European Journal of Endocrinology

ER -