3 Result(s)
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Lamisse Mansour-Hendili
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Article
Open AccessExome sequencing for diagnosis of congenital hemolytic anemia
Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being us...
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Article
CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels
ClC-Kb, a member of the ClC family of Cl− channels/transporters, plays a major role in the absorption of NaCl in the distal nephron. CLCNKB mutations cause Bartter syndrome type 3, a hereditary renal salt-wasting...
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Article
Open AccessFanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome
Gitelman syndrome is an autosomal recessive tubulopathy characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. The majority of patients do not present with symptoms until late chi...
