Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2 -associated idiopathic basal ganglia calcification (IBGC1)

Author:

Hozumi IsaoORCID,Kurita Hisaka,Ozawa Kazuhiro,Furuta Nobuyuki,Inden Masatoshi,Sekine Shin-ichiro,Yamada Megumi,Hayashi Yuichi,Kimura AkioORCID,Inuzuka Takashi,Seishima Mitsuru

Funder

Ministry of Health, Labour and Welfare of Japan

Research Committee of CNS Degenerative Diseases

Research on Policy Planning and Evaluation for Rare and Intractable Diseases

Health, Labour and Welfare Sciences Research

Ministry of Education, Culture, Sports, Science and Technology

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference31 articles.

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3. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis;Wang;Nat. Genet.,2012

4. Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan;Yamada;Neurology,2014

5. Living with idiopathic basal ganglia calcification 3: a qualitative study describing the lives and illness of people diagnosed with a rare neurological disease;Takeuchi;Springerplus,2016

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