Primary hyperoxaluria type 1 with a novel mutation

Sidharth Kumar Sethi; Hans R. Waterham; Sonika Sharma; Alok Sharma; Pankaj Hari; Arvind Bagga

doi:https://doi.org/10.1007/s12098-008-0187-2

Primary hyperoxaluria type 1 with a novel mutation

Sidharth Kumar Sethi, Hans R. Waterham, Sonika Sharma, Alok Sharma, Pankaj Hari, Arvind Bagga

Amsterdam Gastroenterology Endocrinology Metabolism (AMC)

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

5 Citations (Scopus)

Abstract

Primary hyperoxaluria type 1 [PH1] is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase AGT, which is encoded by the AGXT gene. We report an Indian family with two affected siblings having a novel mutation in the AGXT gene inherited from the parents. The index case progressed to end stage renal disease at 5 months of age. His 4 month old sibling is presently under follow up with preserved renal function

Original language	English
Pages (from-to)	215-217
Journal	Indian Journal of Pediatrics
Volume	76
Issue number	2
DOIs	https://doi.org/10.1007/s12098-008-0187-2
Publication status	Published - 2009

Access to Document

https://doi.org/10.1007/s12098-008-0187-2

Cite this

@article{5170df300947423ba100d99faf69276f,

title = "Primary hyperoxaluria type 1 with a novel mutation",

abstract = "Primary hyperoxaluria type 1 [PH1] is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase AGT, which is encoded by the AGXT gene. We report an Indian family with two affected siblings having a novel mutation in the AGXT gene inherited from the parents. The index case progressed to end stage renal disease at 5 months of age. His 4 month old sibling is presently under follow up with preserved renal function",

author = "Sethi, {Sidharth Kumar} and Waterham, {Hans R.} and Sonika Sharma and Alok Sharma and Pankaj Hari and Arvind Bagga",

year = "2009",

doi = "https://doi.org/10.1007/s12098-008-0187-2",

language = "English",

volume = "76",

pages = "215--217",

journal = "Indian Journal of Pediatrics",

issn = "0019-5456",

publisher = "Springer India",

number = "2",

}

TY - JOUR

T1 - Primary hyperoxaluria type 1 with a novel mutation

AU - Sethi, Sidharth Kumar

AU - Waterham, Hans R.

AU - Sharma, Sonika

AU - Sharma, Alok

AU - Hari, Pankaj

AU - Bagga, Arvind

PY - 2009

Y1 - 2009

N2 - Primary hyperoxaluria type 1 [PH1] is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase AGT, which is encoded by the AGXT gene. We report an Indian family with two affected siblings having a novel mutation in the AGXT gene inherited from the parents. The index case progressed to end stage renal disease at 5 months of age. His 4 month old sibling is presently under follow up with preserved renal function

AB - Primary hyperoxaluria type 1 [PH1] is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase AGT, which is encoded by the AGXT gene. We report an Indian family with two affected siblings having a novel mutation in the AGXT gene inherited from the parents. The index case progressed to end stage renal disease at 5 months of age. His 4 month old sibling is presently under follow up with preserved renal function

U2 - https://doi.org/10.1007/s12098-008-0187-2

DO - https://doi.org/10.1007/s12098-008-0187-2

M3 - Article

C2 - 18810341

SN - 0019-5456

VL - 76

SP - 215

EP - 217

JO - Indian Journal of Pediatrics

JF - Indian Journal of Pediatrics

IS - 2

ER -