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Adrenoleukodystrophy in Norway: High Rate of De Novo Mutations and Age-Dependent Penetrance
by
Horn, Morten A., MD
,
Retterstøl, Lars, PhD
,
Abdelnoor, Michael, PhD
,
Skjeldal, Ola H., PhD
,
Tallaksen, Chantal M.E., PhD
Published in
Pediatric neurology
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Adult Refsum Disease: A Form of Tapetoretinal Dystrophy Accessible to Therapy
by
Rüether, Klaus, MD
,
Baldwin, Eleanor, BSc, RD
,
Casteels, Minne, MD, PhD
,
Feher, Michael D., MD, FRCP
,
Horn, Morten, MD
,
Kuranoff, Susan, MA
,
Leroy, Bart P., MD, PhD
,
Wanders, Ronald J., PhD
,
Wierzbicki, Anthony S., DM, Dphil, FRCPath
Published in
Survey of ophthalmology
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Pediatric Neurology
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Survey Of Ophthalmology
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Adrenoleukodystrophy - Epidemiology
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Anosmia
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Atp Binding Cassette Transporter, Sub-Family D, Member 1
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