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Ingrid Du Chesne

Boston Children's Hospital

5

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94

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Limitations of galactose therapy in phosphoglucomutase 1 deficiency

2017 Molecular genetics and metabolism reports
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Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

2016 EBioMedicine
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News on Clinical Details and Treatment in PGM1-CDG.

2015
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The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation

2014 Clinica Chimica Acta
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