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Pitfalls in the Diagnosis of Hereditary Fructose Intolerance
by
Kim, Alexander Y.
,
Hughes, Joel J.
,
Pipitone Dempsey, Angela
,
Sondergaard Schatz, Krista
,
Wang, Tao
,
Gunay-Aygun, Meral
Published in
Pediatrics (Evanston)
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An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine
by
Kim, Jiyoung
,
Pipitone Dempsey, Angela
,
Kim, Sun Young
,
Gunay-Aygun, Meral
,
Vernon, Hilary J.
Published in
Case reports in genetics
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An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine
by
Kim, Jiyoung
,
Pipitone Dempsey, Angela
,
Kim, Sun Young
,
Gunay-Aygun, Meral
,
Vernon, Hilary J
Published in
Case reports in genetics
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Case Reports In Genetics
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Pediatrics
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Arginine
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Aversion
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Care And Treatment
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Case Report
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Children
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Diagnosis
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Epilepsy
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Fosphenytoin
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Fructose
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Fructose Intolerance
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Genetic Screening
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Intolerance
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Life Sciences & Biomedicine
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Liver Diseases
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Lysine
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Medical Diagnosis
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