1.Milder Form of Urea Cycle Defect Revisited: Report and Review of Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria (HHH) Syndrome Diagnosed in a Teenage Girl Presenting with Recurrent Encephalopathy.
Syeda Kashfi QADRI ; Teck Wah TING ; James Sc LIM ; Saumya Shekhar JAMUAR
Annals of the Academy of Medicine, Singapore 2016;45(12):563-566
Amino Acid Transport Systems, Basic
;
genetics
;
Brain Diseases
;
diagnosis
;
etiology
;
Child
;
DNA Mutational Analysis
;
Diet, Protein-Restricted
;
Female
;
Humans
;
Hyperammonemia
;
complications
;
diagnosis
;
diet therapy
;
genetics
;
Ornithine
;
deficiency
;
genetics
;
Recurrence
;
Severity of Illness Index
;
Urea Cycle Disorders, Inborn
;
complications
;
diagnosis
;
diet therapy
;
genetics
Result Analysis
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