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3 studies found for:    "lysinuric protein intolerance" OR "amino acid transport disorders, inborn"

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Rank Status Study
1 Completed Genetic Analysis of Oculocerebrorenal Syndrome of Lowe
Condition: Lowe Syndrome
Intervention:
2 Recruiting Clinical and Molecular Investigations Into Ciliopathies
Conditions: Autosomal Recessive Polycystic Kidney Disease;   Congenital Hepatic Fibrosis;   Caroli's Disease;   Polycystic Kidney Disease;   Joubert Syndrome;   Cerebro-Oculo-Renal Syndromes;   COACH Syndrome;   Senior-Loken Syndrome;   Dekaban-Arima Syndrome;   Cogan Oculomotor Apraxia;   Nephronophthisis;   Bardet-Biedl Syndrome;   Alstrom Syndrome;   Oral-Facial-Digital Syndrome
Intervention:
3 Completed Study of the Pathophysiological Mechanisms Involved in Bleeding Events
Condition: Oculocerebrorenal Syndrome
Intervention: Other: Blood sample
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† Indicates status has not been verified in more than two years