Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) AGXT Gene Mutation

Prince Singh; Fouad T. Chebib; Andrea G. Cogal; Dimitar K. Gavrilov; Peter C. Harris; John C. Lieske

doi:10.1016/j.ekir.2020.04.004

Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) AGXT Gene Mutation

Prince Singh, Fouad T. Chebib, Andrea G. Cogal, Dimitar K. Gavrilov, Peter C. Harris, John C. Lieske

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

Original language	English (US)
Pages (from-to)	955-958
Number of pages	4
Journal	Kidney International Reports
Volume	5
Issue number	6
DOIs	https://doi.org/10.1016/j.ekir.2020.04.004
State	Published - Jun 2020

ASJC Scopus subject areas

Nephrology

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10.1016/j.ekir.2020.04.004

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@article{ed6c750b87334d9db076709dc74464bb,

title = "Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) AGXT Gene Mutation",

author = "Prince Singh and Chebib, {Fouad T.} and Cogal, {Andrea G.} and Gavrilov, {Dimitar K.} and Harris, {Peter C.} and Lieske, {John C.}",

note = "Funding Information: Genetic testing related to this case was funded in part by Rare Kidney Stone Consortium (RKSC), funded through the United States National Institute of Diabetes and Digestive and Kidney Diseases ( U54 DK083908 ) (JCL and PCH). ",

year = "2020",

month = jun,

doi = "10.1016/j.ekir.2020.04.004",

language = "English (US)",

volume = "5",

pages = "955--958",

journal = "Kidney International Reports",

issn = "2468-0249",

publisher = "Elsevier Inc.",

number = "6",

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AU - Singh, Prince

AU - Chebib, Fouad T.

AU - Cogal, Andrea G.

AU - Gavrilov, Dimitar K.

AU - Harris, Peter C.

AU - Lieske, John C.

N1 - Funding Information: Genetic testing related to this case was funded in part by Rare Kidney Stone Consortium (RKSC), funded through the United States National Institute of Diabetes and Digestive and Kidney Diseases ( U54 DK083908 ) (JCL and PCH).

PY - 2020/6

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U2 - 10.1016/j.ekir.2020.04.004

DO - 10.1016/j.ekir.2020.04.004

M3 - Article

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SN - 2468-0249

VL - 5

SP - 955

EP - 958

JO - Kidney International Reports

JF - Kidney International Reports

IS - 6

ER -

Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) AGXT Gene Mutation

ASJC Scopus subject areas

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