Results 131 to 140 of about 6,399 (205)

A Case Report of Pearson Syndrome: Addressing the Complexities beyond Anemia. [PDF]

Mol Syndromol
Das N, Sait H, Singh A, Maurya RK, Gupta V, Mandal K.   +5 more
europepmc   +1 more source

Renal cysts in WDR72-associated distal renal tubular acidosis: expanding the phenotypic spectrum. [PDF]

CEN Case Rep
Vallabhaneni P, Dawman L, Bhatia A, Kumar V, Bala A, Tiewsoh K.   +5 more
europepmc   +1 more source

From intracellular processing to renal phenotypes: a mechanism-informed framework for interpreting kidney injury and electrolyte patterns with antibody-drug conjugates in solid tumors. [PDF]

Front Pharmacol
Jiang Y, Xu J, Wang Z, Zhang S.
europepmc   +1 more source

Severe growth retardation in Dent disease: a case report of a novel OCRL variant. [PDF]

CEN Case Rep
Akacı O, Eren E.
europepmc   +1 more source

Adult-Onset Bartter Syndrome Presenting as Refractory Hypokalemia and Metabolic Alkalosis: A Case Report. [PDF]

Clin Case Rep
Asif M, Sanam A, Ilyas M, Tahir S, Hanif T, Khalid M, Sarwar I, Segawa F.   +7 more
europepmc   +1 more source

A novel idiopathic transient tubulopathy associated with exercise-induced-seizures: A case report. [PDF]

Epilepsy Behav Rep
Ramos-Zaldívar HM, Domínguez ESP, Monterroso-Reyes JM, Caballero AYR, Jones JR, Salas-Huenuleo E, Villarroel MFH, Villarroel-Espíndola F, Silva-Jiménez S, Santa Cruz-Flores RE, Jeria CAP, Urriola CRG, Fierro MP.   +12 more
europepmc   +1 more source

Acute quadriparesis revealing Gitelman syndrome: a case report. [PDF]

Ann Med Surg (Lond)
Chandani HK, Ather A, Siddiqui E, Khan MS, Chandani DK, Mahmoud A.   +5 more
europepmc   +1 more source

Reported Life-Threatening Polymorphic Ventricular Arrhythmia With Torsade-Like Morphology in a Patient With Gordon Syndrome and Hyperkalaemia. [PDF]

Cureus
Kayani L, Emam A, Nair R, Elmahadi S.
europepmc   +1 more source

Sulfate handling in proximal renal tubular defects: an exploratory study. [PDF]

Pediatr Nephrol
Bakker ED, Wamelink M, Smith DEC, Levtchenko EN, Bökenkamp A.   +4 more
europepmc   +1 more source

Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report. [PDF]

Clin Case Rep
Melkie IS, Wolde AA, Mengesha LY, Kinfe RA, Mengistie CT, Gubai ZY.   +5 more
europepmc   +1 more source