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Your search keyword '"AUTOSOMAL recessive polycystic kidney"' showing total 10 results

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10 results on '"AUTOSOMAL recessive polycystic kidney"'

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1. Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease.

2. Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases.

3. Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.

4. A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.

5. STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.

6. Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease.

7. Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management.

8. Family burden in inherited ichthyosis: creation of a specific questionnaire.

9. Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea.

10. Nijmegen breakage syndrome (NBS).

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