Results 141 to 150 of about 66,726 (167)

Mild form of aromatic L-amino acid decarboxylase deficiency. [PDF]

open access: yesBMJ Case Rep
Kenina V   +4 more
europepmc   +1 more source

XLA-MTS: a distinct clinical genetic entity characterized by immunodeficiency and neurodevelopmental delay. [PDF]

open access: yesOrphanet J Rare Dis
Ventura I   +6 more
europepmc   +1 more source

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations

open access: yesNew England Journal of Medicine, 2009
Background: Five children from two consanguineous families presented with epilepsy beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing tubulopathy with normotensive hypokalemic metabolic alkalosis.
Dorothy Thompson   +2 more
exaly   +3 more sources

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