Marjan Huizing

4PUBLICATIONS
20CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Genetic immunologyNeurology and neuromuscular diseasesRespiratory diseases
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Publications (4)

|May 26, 2026
A model of free sialic acid storage disorder reveals hypomyelinating leukodystrophy and Purkinje cell degeneration.

|Oct 03, 2023
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.

Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon

|Apr 24, 2021
Population Pharmacokinetic Model of N-acetylmannosamine (ManNAc) and N-acetylneuraminic acid (Neu5Ac) in Subjects with GNE Myopathy.

Scott Van Wart, Donald E Mager, Cindy J Bednasz

|Jan 04, 2020
Hermansky-Pudlak syndrome: Mutation update.

Marjan Huizing, May C V Malicdan, Jennifer A Wang

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Frequent Collaborators

2 joint publications

May Christine V Malicdan

2 joint publications

William A Gahl

1 joint publications

Nuria Carrillo

1 joint publications

Marie Morimoto