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aminoaciduria
(phenotype)
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Genetic Markers
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OMIM - Congenital disorder
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Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.
Neutral aminoaciduria in cystathionine β-synthase-deficient mice; an animal model of homocystinuria.
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mito…
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.
Aminoaciduria and metabolic dysregulation during diabetic ketoacidosis: Results from the diabetic ki…
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Dose-Dependent Effect of Thiazide in Dent's Disease Hypercalciuria
Oral Urea Breath Testing for Diagnosis and Treatment Response in Pulmonary Tuberculosis
Role Of Phosphorus And FGF 23 In Patients With Dent Disease
5-ALA Patch-PDT of Actinic Keratosis on the Upper Extremities
Analysis of SARS-CoV2 Urine Viral Particles and Association With Proximal Tubular Dysfunction
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