GM1 Gangliosidosis Type 2 (late-infantile/juvenile): Disease Characteristics Research Report

Target disease: GM1 gangliosidosis type 2 (Type II; late-infantile and juvenile)
Category: Mendelian (autosomal recessive lysosomal storage disorder)
Core ontology IDs: MONDO:0009261 (type 2) and MONDO:0018149 (general GM1 gangliosidosis) (OpenTargets Search: GM1 gangliosidosis)

Table: This table compiles the main disease identifiers, molecular anchors, and commonly used names for GM1 gangliosidosis type II. It is useful as a normalization aid for mapping literature, ontology terms, and trial records to the same disease concept.

1. Disease Information

1.1 Concise overview

GM1 gangliosidosis is a progressive, neurosomatic lysosomal storage disorder caused by pathogenic variants in GLB1, resulting in deficiency of lysosomal acid β-galactosidase (β-gal) and accumulation of GM1 ganglioside and related glycoconjugates. Clinical severity spans a continuum but is commonly categorized by age of onset into infantile (type I), late-infantile/juvenile (type II), and adult/chronic (type III). Type II is generally less rapidly progressive than type I but remains neurodegenerative and life-limiting. (rha2021gm1gangliosidosismechanisms pages 1-2, nicoli2021gm1gangliosidosis—aminireview pages 1-2)

1.2 Key identifiers and synonyms

• MONDO: type II GM1 gangliosidosis = MONDO:0009261; GM1 gangliosidosis (general) = MONDO:0018149 (OpenTargets Search: GM1 gangliosidosis).
• ICD-10: E75.1 (reported in a 2024 clinical genetics case report) (zagaynova2024casereportpreimplantation pages 1-2).
• OMIM: Type I 230500; Type II 230600; Type III 230650 (zagaynova2024casereportpreimplantation pages 1-2).
• MeSH term: “Gangliosidosis, GM1” (as used in ClinicalTrials.gov condition-browse metadata) (NCT04041102 chunk 2, NCT04041102 chunk 3).

Common synonyms used in the literature include “late-infantile GM1 gangliosidosis,” “juvenile GM1 gangliosidosis,” “intermediate GM1 gangliosidosis,” and subtype labels type IIa (late infantile) / type IIb (juvenile) (arashkaps2019theclinicaland pages 1-2, lang2020thenaturalhistory pages 1-2, ferreira2020theskeletalphenotype pages 1-6).

Orphanet (ORPHA) ID and ICD-11 code: not found in the retrieved full-text evidence; would require direct lookup in Orphanet/WHO ICD-11 resources (gap).

1.3 Evidence source type

This report is derived from: (i) aggregated disease-level reviews and cohort studies, (ii) prospective natural history observational cohorts, (iii) clinical-trial registry records, and (iv) translational biomarker and model-organism studies.

2. Etiology

2.1 Disease causal factors

Primary cause: biallelic pathogenic variants in GLB1 encoding β-galactosidase → deficient lysosomal β-gal activity → lysosomal storage of GM1 ganglioside and other β-linked galactose-containing substrates (including keratan sulfate–related glycoconjugates) (arashkaps2019theclinicaland pages 1-2, rha2021gm1gangliosidosismechanisms pages 1-2).

Inheritance: autosomal recessive (karimzadeh2017casereportsof pages 1-2, rha2021gm1gangliosidosismechanisms pages 1-2).

2.2 Risk factors

For a Mendelian disorder, the dominant “risk factors” are genetic: * Carrier status in parents (autosomal recessive) and consanguinity (illustrated in juvenile type II case series from consanguineous families) (karimzadeh2017casereportsof pages 1-2).
Founder effects / high carrier frequency* in specific populations (Roma and Cypriot village example; see §9) (rha2021gm1gangliosidosismechanisms pages 1-2).

2.3 Protective factors and gene–environment interactions

No robust protective genetic variants or gene–environment interactions were identified in the retrieved evidence. Some genotype–phenotype association concepts are noted (e.g., type II/III often retaining residual β-gal activity), but these reflect allelic severity rather than protective modifiers (lang2020thenaturalhistory pages 1-2, lang2020thenaturalhistory pages 2-3).

3. Phenotypes (Type II: late-infantile and juvenile)

Large, systematically phenotyped type II cohorts now exist. A key 2024 10-year prospective observational study enrolled 41 individuals with type II GM1 (late infantile ~17; juvenile ~24), providing multi-system assessments including MRI/MRS and adaptive behavior measures (d’souza2024gm1gangliosidosistype pages 1-3).

The table below consolidates key phenotypes and suggested HPO terms.

Table: This table summarizes the main clinical, imaging, and laboratory phenotypes reported for GM1 gangliosidosis type II, split where possible between late-infantile and juvenile presentations. It is useful for mapping disease features to HPO terms and for distinguishing common progression patterns and frequencies from recent natural-history studies.

3.1 Phenotype highlights with quantitative data (recent)

• Diagnostic delay: median time from symptom onset to diagnosis in probands was 1.53 years (late infantile) vs 5.5 years (juvenile) in the 2024 prospective cohort—consistent with milder/atypical presentations in juvenile type II (d’souza2024gm1gangliosidosistype pages 6-9). In a skeletal-focused cohort, average time from symptom onset to diagnosis was 1.9 years (late infantile) vs 6.3 years (juvenile) (ferreira2020theskeletalphenotype pages 1-6).
• Preserved hearing compared with type I: peripheral hearing was normal in 88% (15/17) late-infantile and 92% (22/24) juvenile participants; abnormal auditory brainstem responses occurred in a subset (d’souza2024gm1gangliosidosistype pages 9-12).
• Neuroimaging biomarkers: MRI showed high prevalence of atrophy and white matter abnormalities with subtype differences (e.g., late infantile cerebellar atrophy 79% vs juvenile 29%) and age correlations for some atrophy ratings (ρage up to 0.79) (d’souza2024gm1gangliosidosistype pages 12-15).
• MRS biomarkers: both groups had elevated myo-inositol and decreased N-acetylaspartate (NAA) with age correlations (juvenile NAA ρ=-0.74; late infantile NAA ρ=-0.59) (d’souza2024gm1gangliosidosistype pages 12-15).

3.2 Quality of life (QoL) impact

Direct patient QoL instruments were not extracted from the type II natural history texts; however, caregiving burden data from the U.S. indicate high functional dependence in juvenile/late-onset GM1/GM2: caregivers reported frequent mobility aid use and speech difficulties, plus substantial psychological and financial burden (qualitative; not subtype-specific) (rodriguez2025burdenofcaregiving pages 1-2).

4. Genetic / Molecular Information

4.1 Causal gene

• GLB1 (galactosidase beta 1) is the primary causal gene for GM1 gangliosidosis and is strongly supported in disease–target resources (OpenTargets) and clinical literature (OpenTargets Search: GM1 gangliosidosis, rha2021gm1gangliosidosismechanisms pages 1-2).

4.2 Pathogenic variants and genotype–phenotype themes

• Allelic heterogeneity is extensive: a review notes “more than 200 pathogenic GLB1 mutations” and very large numbers of possible allele combinations, complicating molecular interpretation (rha2021gm1gangliosidosismechanisms pages 2-3).
• Type II/III patients frequently show residual enzyme activity and are often compound heterozygotes (e.g., one null and one missense allele), consistent with attenuated severity compared with type I (lang2020thenaturalhistory pages 1-2, lang2020thenaturalhistory pages 2-3).
• In the 2024 prospective type II cohort, classification of 37 distinct variants resulted in upgrades and new pathogenic/likely pathogenic submissions, underscoring ongoing variant reclassification work in clinically followed cohorts (d’souza2024gm1gangliosidosistype pages 1-3).

4.3 Modifier genes / epigenetics / chromosomal abnormalities

No validated modifier genes, epigenetic drivers, or chromosomal abnormalities specific to type II GM1 were identified in the retrieved evidence.

5. Environmental Information

GM1 type II is fundamentally genetic; no consistent environmental or lifestyle contributors were identified in the retrieved literature.

6. Mechanism / Pathophysiology

6.1 Causal chain (current understanding)

1. GLB1 loss-of-function → deficient lysosomal β-galactosidase activity (rha2021gm1gangliosidosismechanisms pages 1-2).
2. Substrate accumulation (GM1 ganglioside and other β-gal substrates) in lysosomes and internal membranes (rha2021gm1gangliosidosismechanisms pages 1-2).
3. ER stress and Ca2+ dysregulation: GM1 enrichment in the ER increases ER Ca2+ efflux and activates the unfolded protein response (UPR). GM1-enriched microdomains increase ER–mitochondria contact sites (MAMs), promoting abnormal Ca2+ transfer into mitochondria and mitochondrial Ca2+ overload, triggering apoptosis (nicoli2021gm1gangliosidosis—aminireview pages 4-5, rha2021gm1gangliosidosismechanisms pages 3-5).
4. Synaptic dysfunction / neurotransmission changes: model data indicate Ca2+ influx/efflux abnormalities and impaired neurotransmitter uptake associated with stored lipids, contributing to circuit dysfunction and neurodegeneration (rha2021gm1gangliosidosismechanisms pages 5-6).
5. Downstream tissue injury: progressive neuronal dysfunction and loss, with varying degrees of gliosis/neuroinflammation depending on stage/model (nicoli2021gm1gangliosidosis—aminireview pages 4-5, eikelberg2020axonopathyandreduction pages 1-3).

6.2 Recent developments (2023–2024): single-nucleus transcriptomics

A 2024 single-nucleus RNA-seq study in a GM1 mouse model highlighted cell-type–specific changes and pathway enrichments consistent with neurodegeneration and synaptic dysfunction. The authors reported that affected pathways included oxidative phosphorylation and neuroactive ligand–receptor interactions, and suggested neurotransmitter/circuit disruption may be more prominent than early inflammatory activation at the studied stage (16 weeks), with no detected microglial/astrocyte activation or innate immunity gene upregulation at that time point (Sep 2024; https://doi.org/10.3390/ijms25179712) (liu2024insightsintothe pages 1-2, liu2024insightsintothe pages 13-15).

6.3 Suggested ontology terms

• GO biological processes (examples): lysosomal catabolic process; unfolded protein response; regulation of intracellular calcium ion homeostasis; mitochondrion-mediated apoptotic signaling; synaptic transmission. Supported mechanistic themes include UPR-mediated apoptosis and synaptic dysfunction (rha2021gm1gangliosidosismechanisms pages 3-5, liu2024insightsintothe pages 13-15).
• Cell types (CL, examples): neuron; astrocyte; microglial cell; oligodendrocyte; oligodendrocyte precursor cell. Cell-type-specific transcriptomic changes were reported across neurons and glia (liu2024insightsintothe pages 1-2, liu2024insightsintothe pages 13-15).

7. Anatomical Structures Affected

7.1 Organ/system level

• Central nervous system (primary): progressive neurodegeneration, brain atrophy, white matter abnormalities (d’souza2024gm1gangliosidosistype pages 12-15).
• Eye/visual system: strabismus, nystagmus, cortical/neurologic visual impairment in a substantial fraction of late-infantile patients (d’souza2024gm1gangliosidosistype pages 6-9).
• Skeletal system: dysostosis multiplex spectrum, odontoid hypoplasia, low bone mineral density, avascular necrosis in some juvenile patients (ferreira2020theskeletalphenotype pages 1-6).
• Cardiac valves (subset, more in older juveniles): aortic/mitral valve thickening with regurgitation (d’souza2024gm1gangliosidosistype pages 1-3, d’souza2024gm1gangliosidosistype pages 9-12).

7.2 Tissue/cell level and subcellular localization

• Cellular compartment: lysosome (primary storage) and ER/MAM involvement (mechanistic) (nicoli2021gm1gangliosidosis—aminireview pages 4-5, rha2021gm1gangliosidosismechanisms pages 3-5).
• Affected CNS cell populations: neurons and glia (microglia/astrocytes/oligodendrocyte lineage) show transcriptional alterations in model systems (liu2024insightsintothe pages 1-2, liu2024insightsintothe pages 13-15).

8. Temporal Development (Type II)

8.1 Onset

Type II is commonly subdivided by onset age: * Late-infantile (type IIa): onset roughly 1–3 years (and more narrowly 7 months–2 years in some summaries) (arashkaps2019theclinicaland pages 1-2, lang2020thenaturalhistory pages 1-2).
Juvenile (type IIb): onset roughly 3–10 years* (often described as 3–5 years in clinical cohorts) (arashkaps2019theclinicaland pages 1-2, ferreira2020theskeletalphenotype pages 1-6).

8.2 Progression and staging proxies

• Late-infantile type II often reaches ~12 months with typical milestones, then plateaus and loses skills between 12–18 months, with many becoming non-ambulatory by age 2 in one cohort (ferreira2020theskeletalphenotype pages 1-6).
• Juvenile type II often begins with subtle gait/speech changes (“stuttering” → dysarthria), later progressing to wheelchair dependence in many by mid-teens (ferreira2020theskeletalphenotype pages 1-6).

Quantitative longitudinal staging is increasingly supported by MRI/MRS and adaptive behavior scales (Vineland) in prospective cohorts (d’souza2024gm1gangliosidosistype pages 12-15).

9. Inheritance and Population

9.1 Epidemiology

Across multiple sources, GM1 gangliosidosis incidence is commonly cited as ~1 in 100,000–200,000 live births (rha2021gm1gangliosidosismechanisms pages 1-2, arashkaps2019theclinicaland pages 1-2). Higher regional incidence has been reported, e.g. southern Brazil ~1:17,000 live births (kannebley2015clinicalfindingsand pages 1-2) and Malta ~1:3,700 live births (rha2021gm1gangliosidosismechanisms pages 1-2). These figures are for GM1 overall rather than type II specifically.

9.2 Population genetics (founder effects / carrier frequency)

Carrier-frequency enrichment has been reported in some populations, including Roma (~1 in 50 overall; up to 1 in 10 in the Rudari sub-isolate) and a Cypriot village where ~1 in 12 residents are carriers (rha2021gm1gangliosidosismechanisms pages 1-2). Such data support targeted genetic counseling and cascade screening in high-risk groups.

10. Diagnostics

10.1 Core diagnostic workflow

• Biochemical testing: assay of β-galactosidase activity remains a common first-line test (rha2021gm1gangliosidosismechanisms pages 2-3). In the 2024 type II cohort, serum β-gal was 0–5% of controls (median 0.028) and CSF β-gal 2–8% of controls (median 0.05), illustrating the severe enzymatic deficit even in type II (d’souza2024gm1gangliosidosistype pages 9-12).
• Molecular confirmation: GLB1 sequencing (single gene, panels, exome/genome) to identify biallelic pathogenic variants (rha2021gm1gangliosidosismechanisms pages 2-3).

10.2 Biomarkers and monitoring (major recent advance: 2023)

A 2023 eBioMedicine biomarker paper developed/validated LC-MS/MS assays for glycan biomarkers and reported H3N2b as a high-dynamic-range pharmacodynamic biomarker: * Abstract-supported core claim (from retrieved evidence text): two pentasaccharides were “>18-fold elevated” in patient plasma/CSF/urine, and H3N2b was “negatively correlated with β-galactosidase activity” and decreased after AAV gene therapy in a cat model and in a treated patient (Jun 2023; https://doi.org/10.1016/j.ebiom.2023.104627) (kell2023apentasaccharidefor pages 1-2, kell2023apentasaccharidefor pages 2-3).

10.3 Imaging and electrophysiology

MRI/MRS abnormalities are common and quantifiable in type II GM1 and can serve as trial endpoints (e.g., atrophy, white matter injury, elevated myo-inositol, reduced NAA) (d’souza2024gm1gangliosidosistype pages 12-15). EEG abnormalities were frequent, particularly in late-infantile type II (d’souza2024gm1gangliosidosistype pages 12-15).

10.4 Differential diagnosis

Because juvenile type II may lack classic infantile signs (e.g., cherry-red maculae, hepatosplenomegaly), it can be mistaken for other ataxic or primarily neurologic disorders; clinicians are advised to consider GM1 in progressive neurodegeneration with spastic-dystonic movement disorders even without visceral findings (arashkaps2019theclinicaland pages 1-2, karimzadeh2017casereportsof pages 1-2).

11. Outcome / Prognosis

Type II GM1 is progressive and life-limiting. A 2021 review summarizes type II as typically presenting between ~7 months and 5 years and leading to death “in mid-childhood to early adulthood,” with variability related to residual β-gal activity (rha2021gm1gangliosidosismechanisms pages 1-2). Detailed type II survival distributions were not extracted from the retrieved type II natural history text excerpts (gap).

12. Treatment

12.1 Current real-world management

No globally approved disease-modifying therapy was identified in the retrieved evidence for GM1 (including type II); care is largely supportive and multidisciplinary (rha2021gm1gangliosidosismechanisms pages 1-2, d’souza2024gm1gangliosidosistype pages 1-3).

12.2 Advanced therapeutics and clinical trials (emphasis 2023–2024)

Table: This table summarizes the main current and emerging therapeutic approaches and clinical trials relevant to GM1 gangliosidosis type II, with emphasis on 2023-2024 developments. It highlights active gene-therapy programs, SRT efforts, and the H3N2b biomarker that is increasingly important for monitoring treatment response in slow-progressing disease.

Key active programs for type II include: * Intravenous AAV9-GLB1 gene transfer (NCT03952637; recruiting): primary objective safety; exploratory endpoints include biomarkers, neurodevelopment/motor outcomes, and MRI measures (ClinicalTrials.gov record 2019; https://clinicaltrials.gov/study/NCT03952637) (NCT03952637 chunk 1).
Cisterna magna AAVhu68-GLB1 (PBGM01)* (NCT04713475; active not recruiting): endpoints include safety, Bayley developmental milestones, Vineland, β-gal and substrate levels (including GM1), NfL, MRI, QoL, and ventilator-free survival vs natural history (ClinicalTrials.gov record 2021; https://clinicaltrials.gov/study/NCT04713475) (NCT04713475 chunk 1).

Biomarker-enabled implementation: H3N2b is increasingly used as a pharmacodynamic marker in translational pipelines, aligning with the need for sensitive endpoints in slowly progressive type II disease (kell2023apentasaccharidefor pages 1-2).

12.3 MAXO term suggestions (examples)

• Gene therapy (in vivo AAV-mediated gene transfer)
• Substrate reduction therapy
• Symptomatic treatment; physical therapy; occupational therapy; speech therapy; anticonvulsant therapy
  (These are suggested for knowledge base mapping; specific MAXO IDs not retrieved in evidence.)

13. Prevention

Primary prevention is feasible only through reproductive/genetic strategies: * Carrier testing and genetic counseling in families and high-risk populations (rha2021gm1gangliosidosismechanisms pages 1-2).
Prenatal diagnosis (e.g., amniocentesis or CVS) is described as an option when parents are carriers (rha2021gm1gangliosidosismechanisms pages 2-3).
Preimplantation genetic testing (PGT-M) can prevent affected births in carrier couples. A 2024 case report describes ART with PGT-M using direct mutation testing plus STR haplotyping around GLB1, followed by prenatal confirmation and birth of an unaffected infant (Feb 2024; https://doi.org/10.3389/fgene.2024.1344051) (zagaynova2024casereportpreimplantation pages 1-2).

Secondary prevention (early detection) is conceptually enabled by newborn screening approaches that combine enzyme and biomarker assays on dried blood spots, but the retrieved evidence does not document routine population-scale NBS implementation for GM1 type II (kell2023apentasaccharidefor pages 16-16, rha2021gm1gangliosidosismechanisms pages 2-3).

14. Other Species / Natural Disease

Naturally occurring GM1-like disease has been described in multiple species including cats, dogs, cattle, sheep, and others, and these have been used for biomarker and therapy studies (eikelberg2020axonopathyandreduction pages 1-3, rha2021gm1gangliosidosismechanisms pages 2-3). Large-animal models are particularly important for CNS-directed delivery and biomarker development relevant to human trials (rha2021gm1gangliosidosismechanisms pages 21-21).

15. Model Organisms

Commonly used models span mouse, large-animal, and human in vitro systems: * Mouse (Glb1−/− knockouts and engineered models): develop CNS lesions and later motor deficits (ataxia/tremor), with neuronal storage pathology and gliosis; used for mechanistic and gene-therapy testing (eikelberg2020axonopathyandreduction pages 1-3, rha2021gm1gangliosidosismechanisms pages 2-3).
Feline models (naturally occurring): closely recapitulate late-infantile/juvenile neurologic disease and have supported AAV gene-therapy studies and biomarker development (rha2021gm1gangliosidosismechanisms pages 2-3, foster2024therapeuticdevelopmentsfor pages 4-5).
Human GLB1-knockout cerebral organoids: derived from isogenic GLB1 knockout iPSCs with <5% β-gal activity; show progressive GM1 accumulation and contain CNS-relevant structures and cell types, enabling human-tissue testing of AAV9-GLB1 (Dec 2019; https://doi.org/10.1016/j.ymgmr.2019.100513) (latour2019humanglb1knockout pages 1-2).

Visual evidence (treatment landscape)

A 2024 Frontiers in Neuroscience review includes a schematic of major therapeutic modalities (ERT, SRT, stem cell therapy, gene therapy) and a table summarizing human clinical trials for GM1 gangliosidosis; these provide a concise visual overview for knowledge base curation and trial tracking (foster2024therapeuticdevelopmentsfor media 704a7e6f, foster2024therapeuticdevelopmentsfor media 3fd6f6a9).

Notes on evidence gaps and reliability

• Several requested identifier types (Orphanet/ICD-11/MeSH tree numbers) were not directly retrievable from the available full-text evidence in this run; they should be added via direct database queries.
• Some emerging clinical gene-therapy outcomes were retrieved as a 2025 preprint (medRxiv) rather than peer-reviewed 2023–2024 publications; therefore, 2023–2024 treatment “latest research” is best represented here by trial activity plus biomarker development (H3N2b) and mechanistic multi-omics work (snRNA-seq) (lewis2025aav9genetherapy pages 1-4, kell2023apentasaccharidefor pages 1-2, liu2024insightsintothe pages 1-2).

References

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3. (ferreira2020theskeletalphenotype pages 1-6): Carlos R. Ferreira, Debra S. Regier, Robin Yoon, Kristen S. Pan, Jean M. Johnston, Sandra Yang, Jürgen W. Spranger, and Cynthia J. Tifft. The skeletal phenotype of intermediate gm1 gangliosidosis: clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention. Feb 2020. URL: https://doi.org/10.1016/j.bone.2019.115142, doi:10.1016/j.bone.2019.115142. This article has 21 citations and is from a domain leading peer-reviewed journal.

4. (NCT04041102 chunk 2): Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients. University of Pennsylvania. 2020. ClinicalTrials.gov Identifier: NCT04041102

5. (NCT04041102 chunk 3): Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients. University of Pennsylvania. 2020. ClinicalTrials.gov Identifier: NCT04041102

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7. (rha2021gm1gangliosidosismechanisms pages 2-3): Allisandra K. Rha, Anne S. Maguire, and Douglas R. Martin. Gm1 gangliosidosis: mechanisms and management. The Application of Clinical Genetics, 14:209-233, Apr 2021. URL: https://doi.org/10.2147/tacg.s206076, doi:10.2147/tacg.s206076. This article has 96 citations.

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14. (d’souza2024gm1gangliosidosistype pages 6-9): Precilla D’Souza, Cristan Farmer, Jean M. Johnston, Sangwoo T. Han, David Adams, Adam L. Hartman, Wadih Zein, Laryssa A. Huryn, Beth Solomon, Kelly King, Christopher P. Jordan, Jennifer G. Myles, Elena-Raluca Nicoli, C. Rothermel, Yoliann Mojica Algarin, Reyna L Huang, Rachel Quimby, Mosufa Zainab, Sarah Bowden, Anna Crowell, A. Buckley, Carmen Brewer, Debra S Regier, Brian P. Brooks, M. Acosta, Eva H Baker, Gilbert Vezina, Audrey Thurm, and C. Tifft. Gm1 gangliosidosis type ii: results of a 10-year prospective study. Genetics in medicine : official journal of the American College of Medical Genetics, 26:101144-101144, Apr 2024. URL: https://doi.org/10.1016/j.gim.2024.101144, doi:10.1016/j.gim.2024.101144. This article has 23 citations.

15. (d’souza2024gm1gangliosidosistype pages 9-12): Precilla D’Souza, Cristan Farmer, Jean M. Johnston, Sangwoo T. Han, David Adams, Adam L. Hartman, Wadih Zein, Laryssa A. Huryn, Beth Solomon, Kelly King, Christopher P. Jordan, Jennifer G. Myles, Elena-Raluca Nicoli, C. Rothermel, Yoliann Mojica Algarin, Reyna L Huang, Rachel Quimby, Mosufa Zainab, Sarah Bowden, Anna Crowell, A. Buckley, Carmen Brewer, Debra S Regier, Brian P. Brooks, M. Acosta, Eva H Baker, Gilbert Vezina, Audrey Thurm, and C. Tifft. Gm1 gangliosidosis type ii: results of a 10-year prospective study. Genetics in medicine : official journal of the American College of Medical Genetics, 26:101144-101144, Apr 2024. URL: https://doi.org/10.1016/j.gim.2024.101144, doi:10.1016/j.gim.2024.101144. This article has 23 citations.

16. (d’souza2024gm1gangliosidosistype pages 3-6): Precilla D’Souza, Cristan Farmer, Jean M. Johnston, Sangwoo T. Han, David Adams, Adam L. Hartman, Wadih Zein, Laryssa A. Huryn, Beth Solomon, Kelly King, Christopher P. Jordan, Jennifer G. Myles, Elena-Raluca Nicoli, C. Rothermel, Yoliann Mojica Algarin, Reyna L Huang, Rachel Quimby, Mosufa Zainab, Sarah Bowden, Anna Crowell, A. Buckley, Carmen Brewer, Debra S Regier, Brian P. Brooks, M. Acosta, Eva H Baker, Gilbert Vezina, Audrey Thurm, and C. Tifft. Gm1 gangliosidosis type ii: results of a 10-year prospective study. Genetics in medicine : official journal of the American College of Medical Genetics, 26:101144-101144, Apr 2024. URL: https://doi.org/10.1016/j.gim.2024.101144, doi:10.1016/j.gim.2024.101144. This article has 23 citations.

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