farber lipogranulomatosis/valine

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NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

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Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family.

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Ingia / Ingia

Farber disease is a rare lysosomal storage disorder caused by a deficiency of the acid ceramidase enzyme, leading to the accumulation of ceramide in various tissues. It usually manifests within a few months after birth with a unique triad of symptoms, including painful and progressive deformed

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Herbal & Natural Medicine

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