Research & Literature

AAC Interventions for Individuals with Autism Spectrum Disorders: State of the Science and Future Research Directions.

Ganz JB

Augmentative and alternative communication (Baltimore, Md. : 1985) 2015; (31(3)):203-14 doi:10.3109/07434618.2015.1047532.

A 13-year follow-up of Finnish patients with Salla disease.

Paavola LE, Remes AM, Harila MJ, et al.

Journal of neurodevelopmental disorders 2015; (7(1)):20 doi:10.1186/s11689-015-9116-7.

Genetic defects in the hexosamine and sialic acid biosynthesis pathway.

Willems AP, van Engelen BG, Lefeber DJ

Biochimica et biophysica acta 2016; (1860(8)):1640-54.

Correlation between morphological MRI findings and specific diagnostic categories in fetal alcohol spectrum disorders.

Boronat S, Sánchez-Montañez A, Gómez-Barros N, et al.

European journal of medical genetics 2017; (60(1)):65-71 doi:10.1016/j.ejmg.2016.09.003.

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Siddiq S, Wilson BJ, Graham ID, et al.

Orphanet journal of rare diseases 2016; (11(1)):168 doi:10.1186/s13023-016-0548-2.

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.

Mütze U, Bürger F, Hoffmann J, et al.

Molecular genetics and metabolism reports 2017; (10()):1-4 doi:10.1016/j.ymgmr.2016.11.004.

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.

Tarailo-Graovac M, Drögemöller BI, Wasserman WW, et al.

Orphanet journal of rare diseases 2017; (12(1)):28 doi:10.1186/s13023-017-0584-6.

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals.

Pérez-López J, Ceberio-Hualde L, García-Morillo JS, et al.

Molecular genetics and metabolism reports 2017; (10()):92-95 doi:10.1016/j.ymgmr.2017.01.011.

A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.

Barmherzig R, Bullivant G, Cordeiro D, et al.

Pediatric neurology 2017; (74()):87-91.e2 doi:10.1016/j.pediatrneurol.2017.05.022.

Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorders.

Denny L, Coles S, Blitz R

American family physician 2017; (96(8)):515-522.

Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses.

Shapiro EG, Escolar ML, Delaney KA, Mitchell JJ

Molecular genetics and metabolism 2017; (122S()):8-16 doi:10.1016/j.ymgme.2017.09.007.

Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.

Kang E, Kim YM, Heo SH, et al.

Clinica chimica acta; international journal of clinical chemistry 2018; (482()):199-202 doi:10.1016/j.cca.2018.04.016.

A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.

Zielonka M, Garbade SF, Kölker S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(2)):347-352 doi:10.1038/s41436-018-0051-3.

Sialuria: Ninth Patient Described Has a Novel Mutation in GNE.

Martinez NN, Lipke M, Robinson J, Wilcken B

JIMD reports 2019; (44()):17-21 doi:10.1007/8904_2018_117.

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement.

Mohammad AN, Bruno KA, Hines S, Atwal PS

Molecular genetics and metabolism reports 2018; (15()):11-14 doi:10.1016/j.ymgmr.2017.12.005.

Alone in a Crowd? Parents of Children with Rare Diseases' Experiences of Navigating the Healthcare System.

Baumbusch J, Mayer S, Sloan-Yip I

Journal of genetic counseling 2018; doi:10.1007/s10897-018-0294-9.

Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.

Žigman T, Petković Ramadža D, Lušić M, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2018; (31(10)):1155-1159.

"It is like a jungle gym, and everything is under construction": The parent's perspective of caring for a child with a rare disease.

Currie G, Szabo J

Child: care, health and development 2019; (45(1)):96-103 doi:10.1111/cch.12628.

Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities.

Maegawa GHB

Journal of child neurology 2019; (34(6)):339-358 doi:10.1177/0883073819828587.

Clinical presentation, diagnosis, and management of fetal alcohol spectrum disorder.

Wozniak JR, Riley EP, Charness ME

The Lancet. Neurology 2019; (18(8)):760-770 doi:10.1016/S1474-4422(19)30150-4.

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration.

Marshall RD, Collins A, Escolar ML, et al.

Orphanet journal of rare diseases 2019; (14(1)):174 doi:10.1186/s13023-019-1142-1.

Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: development of the Caregiver Impact Questionnaire.

Harrington M, Hareendran A, Skalicky A, et al.

Journal of patient-reported outcomes 2019; (3(1)):44 doi:10.1186/s41687-019-0140-3.

Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.

Al-Kouatly HB, Felder L, Makhamreh MM, et al.

Prenatal diagnosis 2020; (40(6)):738-745 doi:10.1002/pd.5678.

Amino Acids Bearing Aromatic or Heteroaromatic Substituents as a New Class of Ligands for the Lysosomal Sialic Acid Transporter Sialin.

Dubois L, Pietrancosta N, Cabaye A, et al.

Journal of medicinal chemistry 2020; (63(15)):8231-8249 doi:10.1021/acs.jmedchem.9b02119.

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.

Klopstock T, Videnovic A, Bischoff AT, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(6)):1342-1352 doi:10.1002/mds.28392.

Free sialic acid storage disorder: Progress and promise.

Huizing M, Hackbarth ME, Adams DR, et al.

Neuroscience letters 2021; (755()):135896 doi:10.1016/j.neulet.2021.135896.

Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene.

Hasnain A, Burnett S, Agatep R, et al.

Cold Spring Harbor molecular case studies 2021; (7(5)) doi:10.1101/mcs.a006106.

A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder.

Hassall S, Smith DM, Rust S, Wittkowski A

Journal of inherited metabolic disease 2022; (45(3)):406-416 doi:10.1002/jimd.12482.

"It Is a Whole Different Life from the Life I Used to Live": Assessing Parents' Support Needs in Paediatric Palliative Care.

Aoun SM, Stegmann R, Deleuil R, et al.

Children (Basel, Switzerland) 2022; (9(3)) doi:10.3390/children9030322.

Pre-operative Considerations in Adult Mucopolysaccharidosis Patients Planned for Cardiac Intervention.

Cross B, Stepien KM, Gadepalli C, et al.

Frontiers in cardiovascular medicine 2022; (9()):851016 doi:10.3389/fcvm.2022.851016.

"Why them, why me, why us?" The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study.

Hassall S, Smith DM, Rust S, et al.

Orphanet journal of rare diseases 2022; (17(1)):193 doi:10.1186/s13023-022-02335-4.

Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis.

Donoghue SE, Heath O, Pitt J, et al.

Clinical chemistry and laboratory medicine 2022; (60(11)):1855-1858 doi:10.1515/cclm-2022-0473.

The molecular mechanism of sialic acid transport mediated by Sialin.

Hu W, Chi C, Song K, Zheng H

Science advances 2023; (9(3)):eade8346 doi:10.1126/sciadv.ade8346.

Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration.

Videnovic A, Pfeiffer HCV, Tylki-Szymańska A, et al.

Frontiers in neurology 2023; (14()):1098454 doi:10.3389/fneur.2023.1098454.

Nutritional status of a group of polish children with FASD: A retrospective study.

Domin A, Mazur A

Frontiers in nutrition 2023; (10()):1111545 doi:10.3389/fnut.2023.1111545.

Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.

Chapleau A, Mirchi A, Tran LT, et al.

Pediatric neurology 2023; (148()):133-137 doi:10.1016/j.pediatrneurol.2023.08.013.

Base editing corrects the common Salla disease SLC17A5 c.115C>T variant.

Harb JF, Christensen CL, Kan SH, et al.

Molecular therapy. Nucleic acids 2023; (34()):102022 doi:10.1016/j.omtn.2023.08.024.

Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study.

Awada N, Holcik M

JIMD reports 2024; (65(2)):63-84 doi:10.1002/jmd2.12403.

A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem.

Klein TL, Bender J, Bolton S, et al.

Orphanet journal of rare diseases 2024; (19(1)):262 doi:10.1186/s13023-024-03262-2.

Neurological manifestations of lysosomal storage diseases.

Elendu C, Babawale EA, Babarinde FO, et al.

Annals of medicine and surgery (2012) 2024; (86(11)):6619-6635 doi:10.1097/MS9.0000000000002611.

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

Shinawi M, Wegner DJ, Paul AJ, et al.

Molecular genetics and metabolism 2025; (144(1)):109004 doi:10.1016/j.ymgme.2024.109004.

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.

Sabir MS, Pollard L, Wolfe L, et al.

JIMD reports 2025; (66(4)):e70029 doi:10.1002/jmd2.70029.

Exploring the experience of communication in healthcare settings with parents of children with a rare genetic condition: "It's the more negative ones that you remember".

Burbury L, Ayres S, Boyle J, et al.

Journal of genetic counseling 2025; (34(4)):e70102 doi:10.1002/jgc4.70102.

Sialic acid-Retaled disorders: Advances in pathophysiology, diagnostic challenges, and differentiating mimics.

Assiri I, Fdil N

Clinica chimica acta; international journal of clinical chemistry 2026; (579()):120620 doi:10.1016/j.cca.2025.120620.

A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review.

Cappozzo F, Severino M, Gennaro E, et al.

Molecular genetics and metabolism reports 2025; (45()):101284 doi:10.1016/j.ymgmr.2025.101284.

The evaluation and care of children with suspected fetal alcohol spectrum disorders in the pediatric medical home: The importance of therapeutic alliance, longitudinal surveillance and trauma-informed care.

Shah PE, Chang R, Hoyme HE

Current problems in pediatric and adolescent health care 2026; (56(1)):101912 doi:10.1016/j.cppeds.2025.101912.

"We are ambassadors, we are advocates": rare disease patient advocacy groups as knowledge brokers across health and social systems-a qualitative study from Poland.

Domaradzki J

Frontiers in public health 2026; (14()):1743598 doi:10.3389/fpubh.2026.1743598.

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.

Wolfenson Z, Grois G, Hailemeskel RF, et al.

Journal of inherited metabolic disease 2026; (49(2)):e70148 doi:10.1002/jimd.70148.

Lysosomal Neuraminidase 1 (NEU1): Its Unique Molecular Characters and Therapeutic Approaches for Deficiencies.

Itoh K, Tsukimoto J

Advances in experimental medicine and biology 2026; (1491()):207-219 doi:10.1007/978-3-032-04153-1_13.

Impact of Mucopolysaccharidosis Type II in Young Children from the Caregiver's Perspective: A Qualitative Study.

Baldwin J, Engmann N, Stanczyk S, et al.

Advances in therapy 2026; (43(9)):4060-4078 doi:10.1007/s12325-026-03643-y.