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Publications by Marjan Huizing
Neurologic Involvement in Patients With Atypical Chediak-Higashi Disease
Neurology
Neurology
The BEACH Is Hot: A LYST of Emerging Roles for BEACH-Domain Containing Proteins in Human Disease
Traffic
Biochemistry
Genetics
Cell Biology
Molecular Biology
Structural Biology
GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges
Neurotherapeutics
Neurology
Pharmacology
Cellular and Clinical Report of New Griscelli Syndrome Type III Cases
Pigment Cell and Melanoma Research
Biochemistry
Dermatology
Oncology
Genetics
Molecular Biology
Identification, Tissue Distribution, and Molecular Modeling of Novel Human Isoforms of the Key Enzyme in Sialic Acid Synthesis, UDP-GlcNAc 2-Epimerase/ManNAc Kinase
Biochemistry
Biochemistry
Novel 47.5-Kb Deletion in RAB27A Results in Severe Griscelli Syndrome Type 2
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Clinical and Molecular Phenotyping of a Child With Hermansky-Pudlak Syndrome-7, an Uncommon Genetic Type of HPS
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Non-Specific Accumulation of Glycosphingolipids in GNE Myopathy
Journal of Inherited Metabolic Disease
Genetics
Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients With Suspected Smith-Magenis Syndrome Without the 17p11.2 Deletion
PLoS ONE
Multidisciplinary
Murine Isoforms of UDP-GlcNAc 2-Epimerase/ManNAc Kinase: Secondary Structures, Expression Profiles, and Response to ManNAc Therapy
Glycoconjugate Journal
Biochemistry
Cell Biology
Molecular Biology
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