Research & Literature

The supportive care needs of parents caring for a child with a rare disease: A scoping review.

Pelentsov LJ, Laws TA, Esterman AJ

Disability and health journal 2015; (8(4)):475-91.

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

Ediz SS, Aralasmak A, Yilmaz TF, et al.

Brain & development 2016; (38(4)):435-8.

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

Kondagari GS, Fletcher JL, Cruz R, et al.

Orphanet journal of rare diseases 2015; (10()):143 doi:10.1186/s13023-015-0357-z.

Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder.

Malatt C, Koning JL, Naheedy J

Journal of radiology case reports 2015; (9(5)):30-8 doi:10.3941/jrcr.v9i5.2149.

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

Zubarioglu T, Kiykim E, Zeybek CA, et al.

Annals of Indian Academy of Neurology 2015; (18(4)):471-4 doi:10.4103/0972-2327.160090.

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients.

Groeschel S, Kühl JS, Bley AE, et al.

JAMA neurology 2016; (73(9)):1133-40 doi:10.1001/jamaneurol.2016.2067.

The supportive care needs of parents with a child with a rare disease: results of an online survey.

Pelentsov LJ, Fielder AL, Laws TA, Esterman AJ

BMC family practice 2016; (17()):88 doi:10.1186/s12875-016-0488-x.

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

Wolf H, Damme M, Stroobants S, et al.

Disease models & mechanisms 2016; (9(9)):1015-28 doi:10.1242/dmm.025122.

Therapy Development for the Lysosomal Storage Disease Fucosidosis using the Canine Animal Model.

Fletcher JL, Taylor RM

Pediatric endocrinology reviews : PER 2016; (13 Suppl 1()):697-706.

Novel mutations in the FUCA1 gene that cause fucosidosis.

Panmontha W, Amarinthnukrowh P, Damrongphol P, et al.

Genetics and molecular research : GMR 2016; (15(3)) doi:10.4238/gmr.15038733.

Brain abnormalities in fucosidosis: transplantation or supportive therapy?

Jiang M, Liu S, Jiang H, et al.

Metabolic brain disease 2017; (32(2)):317-320 doi:10.1007/s11011-017-9968-5.

Management Strategies for CLN2 Disease.

Williams RE, Adams HR, Blohm M, et al.

Pediatric neurology 2017; (69()):102-112 doi:10.1016/j.pediatrneurol.2017.01.034.

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Piraud M, Pettazzoni M, Menegaut L, et al.

Rapid communications in mass spectrometry : RCM 2017; (31(11)):951-963 doi:10.1002/rcm.7860.

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

McGovern MM, Dionisi-Vici C, Giugliani R, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(9)):967-974 doi:10.1038/gim.2017.7.

Individualised advance care planning in children with life-limiting conditions.

Loeffen EAH, Tissing WJE, Schuiling-Otten MA, et al.

Archives of disease in childhood 2018; (103(5)):480-485 doi:10.1136/archdischild-2017-312731.

Recalcitrant chronic rhinosinusitis in the setting of fucosidosis, a rare lysosomal storage disorder.

Peng T, Modi VK, Pearlman AN

International journal of pediatric otorhinolaryngology 2017; (103()):5-9 doi:10.1016/j.ijporl.2017.09.019.

Ocular findings in a patient with fucosidosis.

Sánchez LR, Oatts JT, Duncan JL, et al.

American journal of ophthalmology case reports 2016; (4()):83-86 doi:10.1016/j.ajoc.2016.10.003.

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

Valero-Rubio D, Jiménez KM, Fonseca DJ, et al.

Experimental dermatology 2018; (27(6)):663-667 doi:10.1111/exd.13532.

[Pediatric palliative care].

Mojžíšová M

Casopis lekaru ceskych 2018; (157(1)):37-40.

Newborn screening for Pompe disease: impact on families.

Pruniski B, Lisi E, Ali N

Journal of inherited metabolic disease 2018; (41(6)):1189-1203 doi:10.1007/s10545-018-0159-2.

Supporting Parent Caregivers of Children with Life-Limiting Illness.

Koch KD, Jones BL

Children (Basel, Switzerland) 2018; (5(7)) doi:10.3390/children5070085.

Delivering Pediatric Palliative Care: From Denial, Palliphobia, Pallilalia to Palliactive.

Friedrichsdorf SJ, Bruera E

Children (Basel, Switzerland) 2018; (5(9)) doi:10.3390/children5090120.

UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring.

Huang R, Cathey S, Pollard L, Wood T

Clinical chemistry 2018; (64(12)):1772-1779 doi:10.1373/clinchem.2018.289645.

Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation.

Raymond GV, Aubourg P, Paker A, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2019; (25(3)):538-548 doi:10.1016/j.bbmt.2018.09.036.

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

Wali G, Wali GM, Sue CM, Kumar KR

Neuropediatrics 2019; (50(4)):248-252 doi:10.1055/s-0039-1684052.

Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network.

Page KM, Stenger EO, Connelly JA, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2019; (25(12)):e363-e374 doi:10.1016/j.bbmt.2019.09.003.

Diagnosis and Supportive Management of Fucosidosis: A Case Report.

Kaur A, Dhaliwal AS, Raynes H, et al.

Cureus 2019; (11(11)):e6139 doi:10.7759/cureus.6139.

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

Stepien KM, Ciara E, Jezela-Stanek A

Genes 2020; (11(11)) doi:10.3390/genes11111383.

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

Semeraro M, Sacchetti E, Deodato F, et al.

Orphanet journal of rare diseases 2021; (16(1)):24 doi:10.1186/s13023-020-01662-8.

The Identification of a Novel Fucosidosis-Associated FUCA1 Mutation: A Case of a 5-Year-Old Polish Girl with Two Additional Rare Chromosomal Aberrations and Affected DNA Methylation Patterns.

Domin A, Zabek T, Kwiatkowska A, et al.

Genes 2021; (12(1)) doi:10.3390/genes12010074.

Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

Chkioua L, Amri Y, Chaima S, et al.

BMC medical genomics 2021; (14(1)):208 doi:10.1186/s12920-021-01061-3.

An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis).

Mao SJ, Zhao J, Shen Z, Zou CC

BMC pediatrics 2022; (22(1)):403 doi:10.1186/s12887-022-03414-y.

Cryo-EM structures of human fucosidase FucA1 reveal insight into substrate recognition and catalysis.

Armstrong Z, Meek RW, Wu L, et al.

Structure (London, England : 1993) 2022; (30(10)):1443-1451.e5 doi:10.1016/j.str.2022.07.001.

Fucosidosis: clinical and molecular findings of Turkish patients.

Şanlı ME, Uysal S

The Turkish journal of pediatrics 2022; (64(4)):795-803.

Late Effects in Pediatric Allogeneic Hematopoietic Stem Cell Transplantation for Nonmalignant Diseases: Proxy- and Patient-Reported Outcomes.

Bense JE, Haverman L, von Asmuth EGJ, et al.

Transplantation and cellular therapy 2023; (29(3)):186.e1-186.e10 doi:10.1016/j.jtct.2022.12.024.

The experience of living with Niemann-Pick type C: a patient and caregiver perspective.

Golden E, van Gool R, Cay M, et al.

Orphanet journal of rare diseases 2023; (18(1)):120 doi:10.1186/s13023-023-02741-2.

Lysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship.

El-Amawy HS, Dawoud H

The Egyptian journal of medical human genetics 2022; (23(1)):138 doi:10.1186/s43042-022-00350-5.

Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.

Puente-Ruiz N, Ellis I, Bregu M, et al.

Molecular genetics and metabolism reports 2023; (37()):101009 doi:10.1016/j.ymgmr.2023.101009.

A web-based psychological support program for caregivers of children with rare chronic diseases: a randomized controlled trial.

Tutus D, Niemitz M, Plener PL, et al.

Orphanet journal of rare diseases 2024; (19(1)):27 doi:10.1186/s13023-024-03029-9.

A Dutch paediatric palliative care guideline: a systematic review and evidence-based recommendations for symptom treatment.

van Teunenbroek KC, Mulder RL, Ahout IML, et al.

BMC palliative care 2024; (23(1)):72 doi:10.1186/s12904-024-01367-w.

A Dutch paediatric palliative care guideline: a systematic review and recommendations on advance care planning and shared decision-making.

van Teunenbroek KC, Mulder RL, van Heel DAM, et al.

BMC palliative care 2024; (23(1)):270 doi:10.1186/s12904-024-01568-3.

The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective.

Castaman G, Linari S, Barbato A, et al.

Journal of clinical medicine 2024; (13(22)) doi:10.3390/jcm13226981.

Fucosidosis: A Review of a Rare Disease.

Pekdemir B, Bechelany M, Karav S

International journal of molecular sciences 2025; (26(1)) doi:10.3390/ijms26010353.

Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.

de la Peña MJ, López-Martín S, Fernández-Mayoralas DM, et al.

Molecular genetics & genomic medicine 2025; (13(2)):e70070 doi:10.1002/mgg3.70070.

A Dutch clinical practice guideline for paediatric palliative care: a systematic review and recommendations on psychosocial care including preloss and bereavement care.

van Teunenbroek KC, Mulder RL, Verhagen AAE, et al.

BMC palliative care 2025; (24(1)):147 doi:10.1186/s12904-025-01763-w.

What Constitutes High-Quality Paediatric Palliative Care? A Qualitative Exploration of the Perspectives of Children, Young People, and Parents.

Braybrook D, Coombes L, Scott HM, et al.

The patient 2025; (18(5)):539-561 doi:10.1007/s40271-025-00744-8.

Parental Experiences of Receiving a Rare Genetic Disease Diagnosis for Their Child on Diagnosis Day.

Bullock I, Malone KF, Turnwald A

American journal of medical genetics. Part A 2026; (200(1)):67-76 doi:10.1002/ajmg.a.64223.

Deciphering α-L-Fucosidase Activity Contribution in Human and Mouse: Tissue α-L-Fucosidase FUCA1 Meets Plasma α-L-Fucosidase FUCA2.

Bäumges H, Jelinek S, Lange H, et al.

Cells 2025; (14(17)) doi:10.3390/cells14171355.

Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder.

Berrios C, Gadea R, Strenk M, et al.

Molecular genetics and metabolism 2025; (146(3)):109235 doi:10.1016/j.ymgme.2025.109235.

Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.

Lee A, Bliksrud YT, Onali M, et al.

Journal of inherited metabolic disease 2025; (48(6)):e70095 doi:10.1002/jimd.70095.

Community-based pediatric palliative care: a systematic review of structures, processes, and outcomes.

Acuña-Caicedo SA, González-Brossard AG, Pérez-González LE, et al.

Jornal de pediatria 2026; (102(2)):101510 doi:10.1016/j.jped.2026.101510.

Novel FUCA1 variants in two families, including the first report of a contiguous gene deletion syndrome involving FUCA1 and HMGCL.

Kılıç M, Yıldız H, Dinçsoy Bir F

The Turkish journal of pediatrics 2025; (67(6)):896-903 doi:10.24953/turkjpediatr.2025.6009.

Metachromatic leukodystrophy (MLD) in France: the views of family caregivers on the diagnosis of the disease, its daily burden on their child, and the whole family.

Yazbeck E, Barth M, Boyer A, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2026; (33(3)):105483 doi:10.1016/j.arcped.2026.105483.

Glycoproteinoses: Clinical features, therapeutic landscape, and regulatory pathways in rare lysosomal disorders.

Casazza K, Kimonis V, Whitley CB, Jarnes JR

Molecular genetics and metabolism 2026; (148(2)):110129 doi:10.1016/j.ymgme.2026.110129.

Neurodegenerative Diseases in Children: A Comprehensive Review.

Ailioaie C, Ailioaie LM, Stan CI, et al.

International journal of molecular sciences 2026; (27(9)) doi:10.3390/ijms27094096.

Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity.

Wang H, Xing W

Frontiers in medicine 2026; (13()):1573922 doi:10.3389/fmed.2026.1573922.

Longitudinal Evolution of Neuroimaging Findings in Fucosidosis: Expanding the Neuroradiologic Spectrum.

Nikam R, Eghbal A, Sanger T, Garavatti E

Cureus 2026; (18(7)):e112739 doi:10.7759/cureus.112739.

Early Hematopoietic Stem Cell Transplantation in Type 1 Fucosidosis: Reversal of Central Tegmental Tract Abnormalities.

Palaz M, Taşkın A, Özpınar E, et al.

Pediatric transplantation 2026; (30(10)):e70502 doi:10.1111/petr.70502.