Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome

1. Disease Information

1.1 Concise overview (current understanding)

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA‑PME) is an ultra-rare, autosomal recessive, non‑5q spinal muscular atrophy phenotype characterized by lower motor neuron degeneration (anterior horn cell disease) with progressive muscle weakness plus progressive myoclonic epilepsy and neurologic deterioration. It is caused by biallelic loss‑of‑function variants in ASAH1, encoding lysosomal acid ceramidase (ACDase), and is allelic to Farber disease (acid ceramidase deficiency spectrum). (cuinat2025acidceramidasedeficiency pages 1-2, najafi2023spinalmuscularatrophy pages 1-2)

Direct abstract quotes supporting the definition include: - “Spinal muscular atrophy with progressive myoclonic epilepsy (SMA‑PME) due to acid ceramidase deficiency is a rare disorder, allelic with Farber disease, resulting from recessive ASAH1 variants.” (Cuinat et al., 2025-04; https://doi.org/10.1212/nxg.0000000000200243) (cuinat2025acidceramidasedeficiency pages 1-2) - “Patients present in early childhood with muscle weakness due to anterior horn degeneration and/or progressive drug-resistant myoclonic epilepsy.” (Cuinat et al., 2025-04; https://doi.org/10.1212/nxg.0000000000200243) (cuinat2025acidceramidasedeficiency pages 1-2)

1.2 Key identifiers and nomenclature

• OMIM/MIM: SMA‑PME MIM#159950; Farber disease MIM#228000 (cuinat2025acidceramidasedeficiency pages 1-2)
• ASAH1 gene: encodes acid ceramidase / N-acylsphingosine amidohydrolase 1; reported locus wording includes 8p22 (Najafi 2023) and 8p23.3–p21.3 (Nishio 2024 review) (najafi2023spinalmuscularatrophy pages 1-2, nishio2024clinicalandgenetic pages 19-21)
• MONDO / Orphanet / MeSH / ICD‑10/ICD‑11: Not explicitly provided in the retrieved sources used here; therefore not asserted (cuinat2025acidceramidasedeficiency pages 1-2)

1.3 Synonyms / alternative names

• “Spinal muscular atrophy with progressive myoclonic epilepsy” (SMA‑PME) (cuinat2025acidceramidasedeficiency pages 1-2, najafi2023spinalmuscularatrophy pages 1-2)
• “Acid ceramidase deficiency” (as the umbrella ASAH1 disorder encompassing Farber disease and SMA‑PME) (cuinat2025acidceramidasedeficiency pages 1-2)

1.4 Evidence source type

The retrieved evidence is derived from aggregated disease resources: case reports/series, mutational spectrum reviews, natural history synthesis, and clinical trial registry entries—not from EHR-only sources in this retrieval set. (cuinat2025acidceramidasedeficiency pages 1-2, najafi2023spinalmuscularatrophy pages 2-4, NCT03233841 chunk 1)

Table: This table summarizes the explicitly stated disease, gene, and enzyme identifiers and nomenclature retrieved for ASAH1-related spinal muscular atrophy with progressive myoclonic epilepsy. It is useful for normalization of disease knowledge base entries while clearly marking identifiers that were not available in the retrieved evidence.

2. Etiology

2.1 Primary causes

SMA‑PME is caused by biallelic pathogenic variants in ASAH1, producing acid ceramidase deficiency with downstream ceramide accumulation. (cuinat2025acidceramidasedeficiency pages 1-2, najafi2023spinalmuscularatrophy pages 1-2)

Mechanistic definition quote: - Acid ceramidase “catalyzes the degradation of ceramides into fatty acids and sphingosine inside the lysosome.” (Cuinat et al., 2025-04; https://doi.org/10.1212/nxg.0000000000200243) (cuinat2025acidceramidasedeficiency pages 1-2)

2.2 Risk factors

• Genetic risk factor: recessive inheritance with biallelic ASAH1 variants. A large literature synthesis reported homozygous variants in 55% of SMA‑PME patients, concordant with consanguinity reported in 42%. (cuinat2025acidceramidasedeficiency pages 8-10)
• Environmental risk factors / protective factors / gene–environment interactions: No disease-specific evidence was retrieved here; none are asserted.

3. Phenotypes (clinical spectrum)

3.1 Core phenotype domains (human)

Across recent case series/reviews, core manifestations include: - Motor neuron disease / SMA phenotype: progressive proximal weakness, gait loss, muscle atrophy, tremor; attributed to anterior horn degeneration. (cuinat2025acidceramidasedeficiency pages 1-2, najafi2023spinalmuscularatrophy pages 2-4) - Progressive myoclonic epilepsy: myoclonus and generalized seizures (including tonic‑clonic, absences, drop attacks), often progressively drug‑resistant. (cuinat2025acidceramidasedeficiency pages 2-3, najafi2023spinalmuscularatrophy pages 2-4) - Neurodevelopment/cognition: cognitive impairment and psychomotor regression can appear later in disease in a subset (e.g., cognitive impairment 4/9; psychomotor regression 3/9 in one cohort). (cuinat2025acidceramidasedeficiency pages 3-4) - Sensorineural hearing loss: reported frequently in one cohort (5/9). (cuinat2025acidceramidasedeficiency pages 2-3)

Recent natural history statistics (Cuinat et al. 2025; 9 new patients + literature review): - “A total of 44 patients from 37 families.” (cuinat2025acidceramidasedeficiency pages 2-3) - “Age at onset ranged from 2.5 to 16 years” and epilepsy onset typically “5 to 14 years.” (cuinat2025acidceramidasedeficiency pages 8-10) - In the 9-patient cohort: weakness in 8/9 (mean ~10 years), loss of ambulation 5/9 (mean ~12.6 years), epilepsy 7/9 (mean ~9.7 years), drug resistance 4/7 occurring ~1.1 years after onset. (cuinat2025acidceramidasedeficiency pages 2-3) - Mortality: “50% of patients died before 18 years” and death “at around 17 years of age,” typically from respiratory complications or status epilepticus. (cuinat2025acidceramidasedeficiency pages 8-10, cuinat2025acidceramidasedeficiency pages 1-2)

3.2 Example HPO term suggestions (non-exhaustive)

(ontology mappings suggested for knowledge-base use) - Proximal muscle weakness (HP:0008994) - Muscle atrophy (HP:0003202) - Lower motor neuron dysfunction / neurogenic muscle weakness (HP:0007340, motor neuron phenotype terms) - Myoclonic seizures (HP:0002123) - Generalized tonic-clonic seizures (HP:0002069) - Progressive myoclonic epilepsy (HP:0007256) - Drug-resistant epilepsy (HP:0002340) - Tremor (HP:0001337) - Loss of ambulation (HP:0031936) - Sensorineural hearing impairment (HP:0000407) - Cognitive impairment (HP:0100543) - Developmental regression (HP:0002376)

3.3 Quality-of-life impact

While formal QoL instruments were not reported in the retrieved papers, the progressive loss of gait/ambulation, drug-resistant epilepsy, and cognitive regression imply major functional impairment. Motor scales (MFM‑32; GMFC‑MLD) were used in prospective follow-up in SMA‑PME, indicating clinically meaningful monitoring of function. (cuinat2025acidceramidasedeficiency pages 1-2)

4. Genetic / Molecular Information

4.1 Causal gene

• ASAH1 encodes lysosomal acid ceramidase (ACDase/aCDase); biallelic variants cause SMA‑PME and Farber disease (allelic spectrum). (cuinat2025acidceramidasedeficiency pages 1-2, najafi2023spinalmuscularatrophy pages 1-2)

4.2 Pathogenic variants and genotype–phenotype considerations

• SMA‑PME is described as arising from “biallelic pathogenic variants in ASAH1 gene.” (Najafi et al., 2023-06; https://doi.org/10.1186/s13052-023-01474-z) (najafi2023spinalmuscularatrophy pages 2-4)
• Example variants reported in new SMA‑PME cases include exon 2 missense variants c.109C>A (p.Pro37Thr) and c.125C>T (p.Thr42Met). (najafi2023spinalmuscularatrophy pages 2-4)
• Functional activity example: c.125C>T (p.Thr42Met) was reported to yield “only 32% of normal acid ceramidase activity” in transfected cells in cited work summarized by Nishio et al. (nishio2024clinicalandgenetic pages 21-22)

Genotype–phenotype signals (from compiled case analysis): - Two variants recur in the literature synthesis (e.g., p.(Thr42Met) and p.(Lys152Asn)) and were associated with differences in onset; the 2025 natural history study reports a “genotype-phenotype correlation for the 2 main variants and the disease onset.” (cuinat2025acidceramidasedeficiency pages 1-2) - Variant distribution across ACDase subunits: Farber-associated mutations cluster more in the β-subunit, whereas “a larger number of mutations in SMA‑PME have been identified within the alpha-subunit.” (nishio2024clinicalandgenetic pages 19-21, nishio2024clinicalandgenetic pages 21-22) - “Residual levels of acid ceramidase activity may determine the phenotype of the ASAH1-related disorders.” (nishio2024clinicalandgenetic pages 21-22)

4.3 Inheritance, penetrance, expressivity

• Inheritance: autosomal recessive / recessive ASAH1 variants. (cuinat2025acidceramidasedeficiency pages 1-2, najafi2023spinalmuscularatrophy pages 2-4)
• Expressivity: variable; SMA‑PME and Farber disease form a continuum and presentations can be atypical (e.g., ASAH1 biallelic variants causing a “pure motor phenotype without epileptic myoclonic seizures” in a non‑5q SMA cohort). (theuriet2024geneticcharacterizationof pages 5-6, theuriet2024geneticcharacterizationof pages 6-7)

4.4 Modifier genes / epigenetics

No SMA‑PME-specific human modifier-gene or epigenetic evidence was retrieved in the current tool run.

5. Environmental Information

No SMA‑PME-specific environmental, lifestyle, or infectious contributing factors were identified in the retrieved evidence; this disorder is primarily Mendelian (ASAH1). (cuinat2025acidceramidasedeficiency pages 1-2, najafi2023spinalmuscularatrophy pages 1-2)

6. Mechanism / Pathophysiology

6.1 Causal chain (high-level)

ASAH1 loss of function → reduced lysosomal acid ceramidase activity → ceramide accumulation in tissues (CNS and peripheral organs) → inflammatory responses and neurodegeneration/motor neuron pathology → progressive weakness (SMA phenotype) and progressive myoclonic epilepsy. (cuinat2025acidceramidasedeficiency pages 1-2, derome2024[therapeuticperspectivesfor pages 2-3)

Mechanistic tissue distribution quote (French review): - “Cette mutation empêche l’adressage de l’ACDase au lysosome, réduit son activité enzymatique et entraîne une accumulation de céramides dans le cerveau et les organes périphériques…” (Derome et al., 2024-11; https://doi.org/10.1051/medsci/2024162) (derome2024[therapeuticperspectivesfor pages 2-3) - “Les niveaux de céramides sont élevés dans le SNC, de manière plus importante dans la moelle épinière que dans le cerveau.” (derome2024[therapeuticperspectivesfor pages 2-3)

Neuroinflammation hypothesis (review): - “Accumulation of ceramide may also cause an imbalanced activation of pathways and mediators in microglia, leading to neurodegeneration and neuroinflammation.” (Nishio et al., 2024-09; https://doi.org/10.3390/genes15101294) (nishio2024clinicalandgenetic pages 19-21)

6.2 Pathways and ontology suggestions

• GO biological process: ceramide catabolic process; sphingolipid metabolic process; lysosomal lumen processes; neuroinflammatory response; microglial activation.
• Cell types (CL): spinal motor neuron (CL:0000099), microglial cell (CL:0000129).
• Pathway resources (conceptual): lysosomal sphingolipid metabolism / ceramide–sphingosine axis.

6.3 Model organism evidence (selected)

A 2024 review summarizes zebrafish ASAH1 knockdown phenotypes: “marked loss of motor-neuron axonal branching and increased spinal-cord apoptosis,” supporting motor neuron vulnerability to ASAH1 deficiency. (nishio2024clinicalandgenetic pages 21-22)

Mouse model survival statistics (therapeutic perspectives review): - Asah1P361R/P361R (Farber-like) median survival “autour de 50 jours” and a milder line with median survival “145 jours.” (derome2024[therapeuticperspectivesfor pages 2-3)

7. Anatomical Structures Affected

7.1 Organ/system level

• Primary: nervous system (spinal anterior horn; epilepsy network), neuromuscular system. (cuinat2025acidceramidasedeficiency pages 1-2)
• Secondary/variable: respiratory system (respiratory complications contribute to death), and in the broader ASAH1 spectrum peripheral organs including liver/spleen/lungs/kidneys can show ceramide accumulation. (cuinat2025acidceramidasedeficiency pages 1-2, derome2024[therapeuticperspectivesfor pages 2-3)

7.2 Ontology suggestions

• UBERON: spinal cord (UBERON:0002240), anterior horn region (UBERON spinal cord gray matter subdivisions), skeletal muscle (UBERON:0001134), brain (UBERON:0000955), liver/spleen/lung/kidney.
• GO cellular component: lysosome (GO:0005764), lysosomal lumen (GO:0043202).

8. Temporal Development

8.1 Onset

• Early childhood onset is typical: “Patients present in early childhood…” (cuinat2025acidceramidasedeficiency pages 1-2)
• Quantified onset range: “Age at onset ranged from 2.5 to 16 years.” (cuinat2025acidceramidasedeficiency pages 8-10)

8.2 Progression and course

The 2025 natural history synthesis describes a progressive course with development of weakness and epilepsy, loss of ambulation, later cognitive decline in some, and adolescent mortality in many. (cuinat2025acidceramidasedeficiency pages 8-10, cuinat2025acidceramidasedeficiency pages 2-3, cuinat2025acidceramidasedeficiency pages 1-2)

9. Inheritance and Population

9.1 Epidemiology

Disease prevalence is not robustly established in the retrieved primary sources. A 2024 French-language review states ASAH1 deficiency prevalence is “<1/1,000,000.” (derome2024[therapeuticperspectivesfor pages 1-2)

9.2 Population and family structure

Consanguinity and homozygosity are prominent in reported cases (55% homozygous variants; 42% parental consanguinity reported). (cuinat2025acidceramidasedeficiency pages 8-10)

10. Diagnostics

10.1 Diagnostic approach (current practice)

• Rule out 5q SMA: Najafi et al. used MLPA to exclude SMN1/SMN2 copy-number abnormalities alongside exome sequencing. (najafi2023spinalmuscularatrophy pages 2-4)
• Confirm ASAH1: via WES/WGS/panels; non‑5q SMA reviews emphasize that “DNA analysis … [is] essential for accurate diagnosis” and that WES/WGS are key tools (while diagnostic yield remains limited). (nishio2024clinicalandgenetic pages 1-2)

Testing-strategy evidence in non‑5q SMA cohorts (actionable for SMA‑PME differential): - Theuriet et al. recommend “a large NGS panel should be the first choice, before performing WES or WGS,” and note ASAH1 was missed because it was not included in the panel: “the ASAH1 variant could not have been detected by the NGS panel, because this gene is currently not included,” prompting the recommendation to update panels to include ASAH1. (Theuriet et al., 2024-06; https://doi.org/10.1038/s41431-023-01407-8) (theuriet2024geneticcharacterizationof pages 6-7)

10.2 Electrophysiology and clinical findings

SMA‑PME is associated with EEG abnormalities (e.g., generalized spikes and slow waves; generalized SW/PSW complexes), and neurogenic changes on muscle biopsy/EMG consistent with denervation in cited case series summarized in the 2024 non‑5q SMA review. (nishio2024clinicalandgenetic pages 19-21, nishio2024clinicalandgenetic pages 21-22)

10.3 Biochemical / molecular biomarkers

Key laboratory measures in recent natural-history work include: - ACDase activity in leukocytes: profoundly decreased (e.g., “1.5%–8.3% of control values” in one cohort). (cuinat2025acidceramidasedeficiency pages 2-3) - C26‑ceramide on dried blood spots (DBS) by LC‑MS/MS: evaluated as a candidate biomarker; authors note limited reliability for longitudinal follow-up in SMA‑PME (moderate accumulation; variable trajectories). (cuinat2025acidceramidasedeficiency pages 12-13) - In-cell ceramide degradation assay in living skin fibroblasts: proposed as a more reliable measure of residual enzymatic activity and a potential pharmacodynamic readout for therapy. (cuinat2025acidceramidasedeficiency pages 1-2)

11. Outcome / Prognosis

SMA‑PME has a poor prognosis with progressive neurologic decline. In compiled analyses, death is often in adolescence, frequently due to respiratory complications or status epilepticus; one synthesis reports that “50% of patients died before 18 years” and death “at around 17 years of age.” (cuinat2025acidceramidasedeficiency pages 8-10, cuinat2025acidceramidasedeficiency pages 1-2)

12. Treatment

12.1 Current standard of care

No disease-modifying or curative treatment is established in the retrieved evidence; management is largely supportive and symptomatic. - Najafi et al. state that “No successful disease-modifying treatments have been reported; management is symptomatic and multidisciplinary.” (najafi2023spinalmuscularatrophy pages 2-4) - A 2024 therapeutic perspectives review states: “À ce jour, il n’y a pas de traitement spécifique ou curatif disponible.” (Derome et al., 2024-11; https://doi.org/10.1051/medsci/2024162) (derome2024[therapeuticperspectivesfor pages 1-2)

12.2 Experimental / translational approaches (expert synthesis)

Because SMA‑PME is on the ASAH1 (acid ceramidase deficiency) spectrum, therapeutic concepts often derive from Farber disease and lysosomal storage disease strategies: - Hematopoietic stem cell transplantation (HSCT): reported to correct peripheral inflammatory signs but not neurologic progression in acid ceramidase deficiency: “correction complète et persistante des signes inflammatoires… mais n’empêche pas la progression de la maladie neurologique.” (derome2024[therapeuticperspectivesfor pages 2-3) - Enzyme replacement therapy (ERT; rhACDase): preclinical ERT lowers ceramide accumulation and inflammatory markers in Asah1 mutant mice; a key limitation is CNS penetration (“does not yet have the full capacity to penetrate the blood–brain barrier”). (Kleynerman et al., 2023-02; https://doi.org/10.3390/biom13020274) (kleynerman2023acidceramidasedeficiency pages 14-15) - Gene therapy / gene-based approaches: discussed conceptually as promising for sphingolipid metabolic disorders and acid ceramidase deficiency in expert reviews; AAV-based delivery and lentiviral HSC gene therapy frameworks are described as potential strategies. (derome2024[therapeuticperspectivesfor pages 2-3, kleynerman2023acidceramidasedeficiency pages 14-15)

12.3 Real-world implementations (clinical studies)

While no SMA‑PME interventional trials were retrieved in this run, Farber disease (same ASAH1/ACDase deficiency spectrum) has structured observational studies relevant to biomarker and outcome development: - Farber Disease Natural History Study (NCT03233841; completed; enrollment 45; first posted 2017): collects clinical/functional outcomes (6MWT, PFTs), PROs, imaging, inflammatory markers, and exploratory “specific ceramide levels” and “cytokines/chemokines” in blood; confirmatory diagnosis includes acid ceramidase activity <30% of control. https://clinicaltrials.gov/study/NCT03233841 (NCT03233841 chunk 1) - BioFarber biomarker study (NCT02298634; withdrawn; first posted 2018): planned NGS confirmation of ASAH1 and mass‑spectrometry biomarker discovery from DBS. https://clinicaltrials.gov/study/NCT02298634 (NCT02298634 chunk 1)

12.4 MAXO term suggestions (non-exhaustive)

• Antiseizure medication therapy; epilepsy management
• Physical therapy; occupational therapy; respiratory supportive care
• Genetic counseling
• Hematopoietic stem cell transplantation (experimental/selected phenotypes)
• Enzyme replacement therapy (investigational)
• Gene therapy (investigational)

13. Prevention

Primary prevention is not applicable in the traditional (environmental) sense for a recessive Mendelian disorder, but genetic counseling and carrier testing in affected families are central.

Given recessive inheritance and high consanguinity fraction reported, preventive strategies include cascade testing and reproductive counseling. (cuinat2025acidceramidasedeficiency pages 8-10)

14. Other Species / Natural Disease

No naturally occurring veterinary disease analogs were retrieved in the current evidence set.

15. Model Organisms

Model-organism work is substantial for acid ceramidase deficiency broadly: - Mouse models (e.g., Asah1P361R/P361R) recapitulate systemic ceramide accumulation, inflammation, and early mortality (median survival ~50 days in one model; 145 days in a milder line). (derome2024[therapeuticperspectivesfor pages 2-3) - Zebrafish knockdown evidence suggests motor neuron axonal branching defects and spinal cord apoptosis. (nishio2024clinicalandgenetic pages 21-22)

Recent developments (2023–2024 emphasis)

• 2023: A comprehensive review connects clinical presentation, mouse models, and therapeutic concepts for acid ceramidase deficiency (including SMA‑PME) and emphasizes barriers such as BBB penetration for ERT. (Kleynerman et al., 2023-02; https://doi.org/10.3390/biom13020274) (kleynerman2023acidceramidasedeficiency pages 14-15, kleynerman2023acidceramidasedeficiency pages 1-2)
• 2023: New SMA‑PME cases with ASAH1 variants and an updated mutational spectrum were reported, reinforcing WES-based diagnosis and the phenotypic heterogeneity. (Najafi et al., 2023-06; https://doi.org/10.1186/s13052-023-01474-z) (najafi2023spinalmuscularatrophy pages 2-4)
• 2024: Non‑5q SMA diagnostic strategy studies emphasize large gene panels first, updating panels to include ASAH1, with WES/WGS reserved for specific scenarios. (Theuriet et al., 2024-06; https://doi.org/10.1038/s41431-023-01407-8) (theuriet2024geneticcharacterizationof pages 6-7)
• 2024: A therapeutic perspectives review (French) consolidates mechanistic and model data and reiterates absence of curative therapy while describing HSCT and gene-therapy frameworks. (Derome et al., 2024-11; https://doi.org/10.1051/medsci/2024162) (derome2024[therapeuticperspectivesfor pages 2-3, derome2024[therapeuticperspectivesfor pages 1-2)

Evidence limitations (important for knowledge base curation)

• Formal cross-ontology disease identifiers (MONDO, Orphanet, MeSH, ICD‑10/11) were not present in the retrieved excerpts and are therefore not reported here. (cuinat2025acidceramidasedeficiency pages 1-2)
• Several quantitative clinical features (e.g., seizure semiology distribution, standardized QoL) remain incompletely characterized in the 2023–2024 literature retrieved, and the most detailed natural history and biomarker evaluation in this run comes from 2025. (cuinat2025acidceramidasedeficiency pages 2-3, cuinat2025acidceramidasedeficiency pages 1-2)

References

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3. (nishio2024clinicalandgenetic pages 19-21): Hisahide Nishio, Emma Niba, Toshio Saito, Kentaro Okamoto, Tomoko Lee, Yasuhiro Takeshima, Hiroyuki Awano, and Poh-San Lai. Clinical and genetic profiles of 5q- and non-5q-spinal muscular atrophy diseases in pediatric patients. Genes, 15:1294, Sep 2024. URL: https://doi.org/10.3390/genes15101294, doi:10.3390/genes15101294. This article has 14 citations.

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5. (NCT03233841 chunk 1): Farber Disease Natural History Study. Sumitomo Pharma Switzerland GmbH. 2017. ClinicalTrials.gov Identifier: NCT03233841

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12. (derome2024[therapeuticperspectivesfor pages 2-3): Marion Derome, Jérôme Denard, Martina Marinello, Thierry Levade, Odile Boespflug-Tanguy, and Ana Buj-Bello. [therapeutic perspectives for lysosomal storage disorders caused by acid ceramidase deficiency]. Medecine sciences : M/S, 40 Hors série n° 1:52-55, Nov 2024. URL: https://doi.org/10.1051/medsci/2024162, doi:10.1051/medsci/2024162. This article has 0 citations.

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14. (nishio2024clinicalandgenetic pages 1-2): Hisahide Nishio, Emma Niba, Toshio Saito, Kentaro Okamoto, Tomoko Lee, Yasuhiro Takeshima, Hiroyuki Awano, and Poh-San Lai. Clinical and genetic profiles of 5q- and non-5q-spinal muscular atrophy diseases in pediatric patients. Genes, 15:1294, Sep 2024. URL: https://doi.org/10.3390/genes15101294, doi:10.3390/genes15101294. This article has 14 citations.

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18. (kleynerman2023acidceramidasedeficiency pages 1-2): Annie Kleynerman, Jitka Rybova, Mary L. Faber, William M. McKillop, Thierry Levade, and Jeffrey A. Medin. Acid ceramidase deficiency: bridging gaps between clinical presentation, mouse models, and future therapeutic interventions. Biomolecules, 13:274, Feb 2023. URL: https://doi.org/10.3390/biom13020274, doi:10.3390/biom13020274. This article has 26 citations.

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