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Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome.

作者信息

Hoytema van Konijnenburg Eva M M, Luirink Ilse K, Schagen Sebastian E E, Engelen Marc, Berendse Kevin, Poll-The Bwee Tien, Chegary Malika

机构信息

Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, Meibergdreef 9 1105, AZ, Amsterdam, the Netherlands.

Department of Pediatrics, OLVG Hospital, Jan Tooropstraat 164 1061 AE, Amsterdam, the Netherlands.

出版信息

Mol Genet Metab Rep. 2020 Apr 28;23:100590. doi: 10.1016/j.ymgmr.2020.100590. eCollection 2020 Jun.

Abstract
摘要

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本文引用的文献

1
Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder.
Biochim Biophys Acta Mol Basis Dis. 2019 Oct 1;1865(10):2774-2787. doi: 10.1016/j.bbadis.2019.06.013. Epub 2019 Jun 15.
2
Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome.
Clin Endocrinol (Oxf). 2019 May;90(5):766-769. doi: 10.1111/cen.13951. Epub 2019 Mar 7.
4
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.
Orphanet J Rare Dis. 2014 Sep 2;9:133. doi: 10.1186/s13023-014-0133-5.
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Biochemistry of mammalian peroxisomes revisited.
Annu Rev Biochem. 2006;75:295-332. doi: 10.1146/annurev.biochem.74.082803.133329.

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