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Metabolic and Genetic Evaluation in Children with Nephrolithiasis.

Indian journal of pediatrics - 1 Dec 2022

Mandal Anita, Khandelwal Priyanka, Geetha Thenral S, Murugan Sakthivel, Meena Jitendra, Jana Manisha, Sinha Aditi, Kumar Rajeev, Seth Amlesh, Hari Pankaj, Bagga Arvind

Abstract excerpt

OBJECTIVE: To evaluate metabolic and genetic abnormalities in children with nephrolithiasis attending a referral center in North India. METHODS: The patients aged 1-18 y old with nephrolithiasis underwent biochemical evaluation and whole-exome sequencing. The authors evaluated for monogenic variants in 56 genes and compared allele frequency of 39 reported polymorphisms between patients and 1739 controls from the...

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PMID: 35819704
DOI: 10.1007/s12098-022-04234-9

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