Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series

Fucosidosis with Pathogenic Variant in FUCA1 Gene

(2020) Vykuntaraju K. Gowda et al.   INDIAN JOURNAL OF PEDIATRICS

The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases

(2020) Brianna M. Naumchik et al.   Cells

Allogeneic hematopoietic stem cell transplant improves outcomes in fucosidosis

(2019) Ashish Gupta et al.   MOLECULAR GENETICS AND METABOLISM

A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review

(2019) Gautam Wali et al.   NEUROPEDIATRICS

Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis

(2019) Arun Babu Kumar et al.   MOLECULAR GENETICS AND METABOLISM

Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases

(2019) Chenxi Yang et al.   MEDICAL SCIENCE MONITOR

Transcriptomic analysis of FUCA1 knock-down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions

(2018) Danyela Valero-Rubio et al.   EXPERIMENTAL DERMATOLOGY

A novel homozygous frameshift mutation in theFUCA1gene causes both severe and mild fucosidosis

(2018) Nasrollah Saleh-Gohari et al.   JOURNAL OF CLINICAL PATHOLOGY

Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice

(2018) Stijn Stroobants et al.   Frontiers in Behavioral Neuroscience

Effect of inbreeding on intellectual disability revisited by trio sequencing

(2018) Kimia Kahrizi et al.   CLINICAL GENETICS

Brain abnormalities in fucosidosis: transplantation or supportive therapy?

(2017) Minyan Jiang et al.   METABOLIC BRAIN DISEASE

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

(2017) Miriam S. Reuter et al.   JAMA Psychiatry

MRI and MRS findings in fucosidosis; a rare lysosomal storage disease

(2016) Suna Sahin Ediz et al.   BRAIN & DEVELOPMENT

A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease

(2016) Heike Wolf et al.   Disease Models & Mechanisms

Novel mutations in the FUCA1 gene that cause fucosidosis

(2016) W. Panmontha et al.   GENETICS AND MOLECULAR RESEARCH

Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation

(2015) Tanyel Zubarioglu et al.   Annals of Indian Academy of Neurology

The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis

(2015) Gauthami Sudhamayee Kondagari et al.   Orphanet Journal of Rare Diseases

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

(2014) Ana Fernández-Marmiesse et al.   Orphanet Journal of Rare Diseases

Teaching NeuroImages: Distinct neuroimaging features of fucosidosis

(2012) P. Jain et al.   NEUROLOGY

Increased cerebellar volume in the early stage of fucosidosis: a case control study

(2011) Thomas Kau et al.   NEURORADIOLOGY

Intrafamilial variability in fucosidosis

(2010) P. J. Willems et al.   CLINICAL GENETICS

Linkage of plasma α-L-fucosidase (FUCA2) and the plasminogen (PLG) system

(2010) H. Eiberg et al.   CLINICAL GENETICS

Phenotypic spectrum of fucosidosis in Tunisia

(2008) H. Ben Turkia et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Severe Hypomyelination as the Leading Neuroradiological Sign in a Patient with Fucosidosis

(2008) V. Prietsch et al.   NEUROPEDIATRICS