Loss-of-Function Mutations inPNPLA6Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome-Reference-Cited by-同舟云学术

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Loss-of-Function Mutations inPNPLA6Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome

Published:2014-10 Issue:10 Volume:99 Page:E2067-E2075
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:The Journal of Clinical Endocrinology & Metabolism

Author:

Topaloglu A. Kemal,Lomniczi Alejandro,Kretzschmar Doris,Dissen Gregory A.,Kotan L. Damla,McArdle Craig A.,Koc A. Filiz,Hamel Ben C.,Guclu Metin,Papatya Esra D.,Eren Erdal,Mengen Eda,Gurbuz Fatih,Cook Mandy,Castellano Juan M.,Kekil M. Burcu,Mungan Neslihan O.,Yuksel Bilgin,Ojeda Sergio R.

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Cited by 88 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders;Brain;2024-05-13

2. Unraveling the link between neuropathy target esterase NTE/SWS, lysosomal storage diseases, inflammation, abnormal fatty acid metabolism, and leaky brain barrier;eLife;2024-04-25

3. Function of Evidentials in Turkish Scientific Texts;Selçuk Üniversitesi Türkiyat Araştırmaları Dergisi;2023-12-20

4. PNPLA6 disorders: what’s in a name?;Ophthalmic Genetics;2023-09-21

5. Unraveling the link between Neuropathy Target Esterase NTE/SWS, lysosomal storage diseases, inflammation, and abnormal fatty acid metabolism;2023-08-12

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