dent disease/alanine

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NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

2 matokeo

Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2

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Ingia / Ingia

Background: Dent disease is associated with low molecular weight proteinuria and hypercalciuria and caused by pathogenic variants in either of two genes: CLCN5 (Dent disease 1) and OCRL (Dent disease 2). It is generally not accompanied by

Muscle involvement in Dent disease 2.

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Ingia / Ingia

BACKGROUND Dent disease, an X-linked recessive renal tubulopathy, is caused by mutations in either CLCN5 (Dent disease 1) or OCRL (Dent disease 2). OCRL mutations can also cause Lowe syndrome. In some cases it is difficult to differentiate Dent disease 1 and 2 on the basis of clinical features only

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Herbal & Natural Medicine

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