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Cystinuria
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AbstractCystinuria accounts for 1% of kidney stones. Two of the genes responsible for the disorder,SLC3A1andSLC7A9, have been identified. The identification ofSLC3A1made cystinuria the first disorder of amino acid transport with an identified gene.
Title: Cystinuria
Description:
AbstractCystinuria accounts for 1% of kidney stones.
Two of the genes responsible for the disorder,SLC3A1andSLC7A9, have been identified.
The identification ofSLC3A1made cystinuria the first disorder of amino acid transport with an identified gene.
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Cystinurietherapie mit Ascorbinsäure
Cystinurietherapie mit Ascorbinsäure
At the beginning of the four chapters on phaenomena, analysis, pathophysiology and therapy of cystinuria the essentials of the published literature are summarized. The frequency of...
Isolated hyperechoic fetal colon before 36 weeks' gestation reveals cystinuria
Isolated hyperechoic fetal colon before 36 weeks' gestation reveals cystinuria
AbstractObjectivesTo determine whether there is an association between the fetal ultrasound finding of hyperechoic colon and the gestational age at which it presents and cystinuria...
Cystinuria
Cystinuria
AbstractCystinuria accounts for 1% of kidney stones in adults and up to 5–7% of stones in children. The two genes responsible for the disorder,SLC3A1andSLC7A9. The genes code, resp...
Comparative analysis of surgical costs vs. theoretical tiopronin therapy in pediatric cystinuria: a single-center experience from Türkiye
Comparative analysis of surgical costs vs. theoretical tiopronin therapy in pediatric cystinuria: a single-center experience from Türkiye
Background. Cystinuria is a rare autosomal recessive disorder leading to recurrent cystine stone formation, often necessitating repeated surgical interventions. In Türkiye, tiopron...
Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature
Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature
Cystinuria is a rare genetic disorder inherited by an autosomal recessive pattern which affects the transmembrane transporter for the base amino acid cystine. It has a general prev...
Cystinuria
Cystinuria
AbstractCystinuria accounts for 1% of kidney stones. Two of the genes responsible for the disorder,SLC3A1andSLC7A9, have been identified. The identification ofSLC3A1made cystinuria...
Autosomal dominant Muckle‐Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four‐generation family
Autosomal dominant Muckle‐Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four‐generation family
AbstractMuckle‐Wells syndrome is a rare autosomal dominant disorder characterized by chronic recurrent urticaria, periodic arthritis, sensorineural deafness, general signs of infla...
Interactions between the thiol-group reagent N-ethylmaleimide and neutral and basic amino acid transporter-related amino acid transport
Interactions between the thiol-group reagent N-ethylmaleimide and neutral and basic amino acid transporter-related amino acid transport
The neutral and basic amino acid transport protein (NBAT) expressed in renal and jejunal brush-border membranes is involved in amino acid and cystine absorption. NBAT mutations res...