510 Ultrastructural and Molecular Correlation in a Pediatric Case of CLN6-Associated Neuronal Ceroid Lipofuscinoses (NCLs) Article Swipe
Rui Liang
,
Brian Faux
,
Katie Wiggins-Dohlvik
,
Yu Zhang
,
Faqian Li
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1093/ajcp/aqaf121.098
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1093/ajcp/aqaf121.098
Introduction/Objective Neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, represents a spectrum of inherited neurodegenerative disorders characterized by lysosomal accumulation of cellular ceroid lipofuscin, a waste product of lipids and proteins. CLN6-associated late-infantile NCL typically progress from developmental delays to regression, cognitive decline, and ultimately seizures. Diagnosis can be challenging due to the variable age of onset and clinical overlap with other neurodevelopmental disorders. We report a 4-year-old female presenting with early speech regression, behavioral concerns, and a prior autism diagnosis. Genetic testing identified a pathogenic CLN6 variant (c.406C>T, p.Arg136Cys) and a variant of uncertain significance (c.497T>C, p.Phe166Ser) on trans alleles. Ultrastructural examination of a skin punch biopsy revealed lipopigment inclusions with characteristic rectilinear complex, occasional fingerprint profiles, and rare curvilinear profiles in different skin cell types, morphologically diagnostic of NCL. Methods/Case Report Case Report Results NA Conclusion Electron microscopy of skin biopsy plays a critical role in confirming the diagnosis of CLN6-related NCL, particularly in genetically complex cases. The identification of different autolysosome inclusions, including rectilinear complex, fingerprint profiles, and curvilinear profiles provides pathologic confirmation of disease in the setting of equivocal clinical and genetic findings.
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1093/ajcp/aqaf121.098
- https://academic.oup.com/ajcp/article-pdf/164/Supplement_1/aqaf121.098/65270947/aqaf121.098.pdf
- OA Status
- bronze
- OpenAlex ID
- https://openalex.org/W7105215771
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W7105215771Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1093/ajcp/aqaf121.098Digital Object Identifier
- Title
-
510 Ultrastructural and Molecular Correlation in a Pediatric Case of CLN6-Associated Neuronal Ceroid Lipofuscinoses (NCLs)Work title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-11-01Full publication date if available
- Authors
-
Rui Liang, Brian Faux, Katie Wiggins-Dohlvik, Yu Zhang, Faqian LiList of authors in order
- Landing page
-
https://doi.org/10.1093/ajcp/aqaf121.098Publisher landing page
- PDF URL
-
https://academic.oup.com/ajcp/article-pdf/164/Supplement_1/aqaf121.098/65270947/aqaf121.098.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://academic.oup.com/ajcp/article-pdf/164/Supplement_1/aqaf121.098/65270947/aqaf121.098.pdfDirect OA link when available
- Concepts
-
Pathology, Biology, Neuronal ceroid lipofuscinosis, Disease, Biopsy, Ultrastructure, Skin biopsy, Lipofuscin, Identification (biology), Batten disease, Clinical diagnosis, Abnormality, Medicine, Molecular pathology, Differential diagnosis, Genetic testingTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
Full payload
| id | https://openalex.org/W7105215771 |
|---|---|
| doi | https://doi.org/10.1093/ajcp/aqaf121.098 |
| ids.doi | https://doi.org/10.1093/ajcp/aqaf121.098 |
| ids.openalex | https://openalex.org/W7105215771 |
| fwci | 0.0 |
| type | article |
| title | 510 Ultrastructural and Molecular Correlation in a Pediatric Case of CLN6-Associated Neuronal Ceroid Lipofuscinoses (NCLs) |
| biblio.issue | Supplement_1 |
| biblio.volume | 164 |
| biblio.last_page | |
| biblio.first_page | |
| topics[0].id | https://openalex.org/T10945 |
| topics[0].field.id | https://openalex.org/fields/27 |
| topics[0].field.display_name | Medicine |
| topics[0].score | 0.8206000924110413 |
| topics[0].domain.id | https://openalex.org/domains/4 |
| topics[0].domain.display_name | Health Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/2737 |
| topics[0].subfield.display_name | Physiology |
| topics[0].display_name | Lysosomal Storage Disorders Research |
| topics[1].id | https://openalex.org/T12604 |
| topics[1].field.id | https://openalex.org/fields/27 |
| topics[1].field.display_name | Medicine |
| topics[1].score | 0.012721015140414238 |
| topics[1].domain.id | https://openalex.org/domains/4 |
| topics[1].domain.display_name | Health Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/2745 |
| topics[1].subfield.display_name | Rheumatology |
| topics[1].display_name | Glycogen Storage Diseases and Myoclonus |
| topics[2].id | https://openalex.org/T10949 |
| topics[2].field.id | https://openalex.org/fields/28 |
| topics[2].field.display_name | Neuroscience |
| topics[2].score | 0.006515669170767069 |
| topics[2].domain.id | https://openalex.org/domains/1 |
| topics[2].domain.display_name | Life Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/2804 |
| topics[2].subfield.display_name | Cellular and Molecular Neuroscience |
| topics[2].display_name | Genetic Neurodegenerative Diseases |
| is_xpac | False |
| apc_list.value | 4440 |
| apc_list.currency | USD |
| apc_list.value_usd | 4440 |
| apc_paid | |
| concepts[0].id | https://openalex.org/C142724271 |
| concepts[0].level | 1 |
| concepts[0].score | 0.7382932901382446 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q7208 |
| concepts[0].display_name | Pathology |
| concepts[1].id | https://openalex.org/C86803240 |
| concepts[1].level | 0 |
| concepts[1].score | 0.48988279700279236 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[1].display_name | Biology |
| concepts[2].id | https://openalex.org/C2778650512 |
| concepts[2].level | 3 |
| concepts[2].score | 0.4743802547454834 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q4358039 |
| concepts[2].display_name | Neuronal ceroid lipofuscinosis |
| concepts[3].id | https://openalex.org/C2779134260 |
| concepts[3].level | 2 |
| concepts[3].score | 0.4632211923599243 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q12136 |
| concepts[3].display_name | Disease |
| concepts[4].id | https://openalex.org/C2775934546 |
| concepts[4].level | 2 |
| concepts[4].score | 0.45678627490997314 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q179991 |
| concepts[4].display_name | Biopsy |
| concepts[5].id | https://openalex.org/C87555872 |
| concepts[5].level | 2 |
| concepts[5].score | 0.45094749331474304 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q3141316 |
| concepts[5].display_name | Ultrastructure |
| concepts[6].id | https://openalex.org/C2780439664 |
| concepts[6].level | 3 |
| concepts[6].score | 0.40297478437423706 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q7535376 |
| concepts[6].display_name | Skin biopsy |
| concepts[7].id | https://openalex.org/C186198217 |
| concepts[7].level | 2 |
| concepts[7].score | 0.4009052813053131 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q217740 |
| concepts[7].display_name | Lipofuscin |
| concepts[8].id | https://openalex.org/C116834253 |
| concepts[8].level | 2 |
| concepts[8].score | 0.3954702615737915 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q2039217 |
| concepts[8].display_name | Identification (biology) |
| concepts[9].id | https://openalex.org/C2778230176 |
| concepts[9].level | 3 |
| concepts[9].score | 0.3710205852985382 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q1753778 |
| concepts[9].display_name | Batten disease |
| concepts[10].id | https://openalex.org/C2983449737 |
| concepts[10].level | 2 |
| concepts[10].score | 0.31848010420799255 |
| concepts[10].wikidata | https://www.wikidata.org/wiki/Q177719 |
| concepts[10].display_name | Clinical diagnosis |
| concepts[11].id | https://openalex.org/C50965678 |
| concepts[11].level | 2 |
| concepts[11].score | 0.3130531907081604 |
| concepts[11].wikidata | https://www.wikidata.org/wiki/Q2724302 |
| concepts[11].display_name | Abnormality |
| concepts[12].id | https://openalex.org/C71924100 |
| concepts[12].level | 0 |
| concepts[12].score | 0.2983192503452301 |
| concepts[12].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[12].display_name | Medicine |
| concepts[13].id | https://openalex.org/C74092355 |
| concepts[13].level | 3 |
| concepts[13].score | 0.2679317593574524 |
| concepts[13].wikidata | https://www.wikidata.org/wiki/Q1056943 |
| concepts[13].display_name | Molecular pathology |
| concepts[14].id | https://openalex.org/C2780801072 |
| concepts[14].level | 2 |
| concepts[14].score | 0.26512858271598816 |
| concepts[14].wikidata | https://www.wikidata.org/wiki/Q837512 |
| concepts[14].display_name | Differential diagnosis |
| concepts[15].id | https://openalex.org/C2780673598 |
| concepts[15].level | 2 |
| concepts[15].score | 0.26278066635131836 |
| concepts[15].wikidata | https://www.wikidata.org/wiki/Q285223 |
| concepts[15].display_name | Genetic testing |
| keywords[0].id | https://openalex.org/keywords/neuronal-ceroid-lipofuscinosis |
| keywords[0].score | 0.4743802547454834 |
| keywords[0].display_name | Neuronal ceroid lipofuscinosis |
| keywords[1].id | https://openalex.org/keywords/disease |
| keywords[1].score | 0.4632211923599243 |
| keywords[1].display_name | Disease |
| keywords[2].id | https://openalex.org/keywords/biopsy |
| keywords[2].score | 0.45678627490997314 |
| keywords[2].display_name | Biopsy |
| keywords[3].id | https://openalex.org/keywords/ultrastructure |
| keywords[3].score | 0.45094749331474304 |
| keywords[3].display_name | Ultrastructure |
| keywords[4].id | https://openalex.org/keywords/skin-biopsy |
| keywords[4].score | 0.40297478437423706 |
| keywords[4].display_name | Skin biopsy |
| keywords[5].id | https://openalex.org/keywords/lipofuscin |
| keywords[5].score | 0.4009052813053131 |
| keywords[5].display_name | Lipofuscin |
| keywords[6].id | https://openalex.org/keywords/identification |
| keywords[6].score | 0.3954702615737915 |
| keywords[6].display_name | Identification (biology) |
| language | en |
| locations[0].id | doi:10.1093/ajcp/aqaf121.098 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S15871148 |
| locations[0].source.issn | 0002-9173, 1943-7722 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | False |
| locations[0].source.issn_l | 0002-9173 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | False |
| locations[0].source.display_name | American Journal of Clinical Pathology |
| locations[0].source.host_organization | https://openalex.org/P4310311648 |
| locations[0].source.host_organization_name | Oxford University Press |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310311648 |
| locations[0].license | |
| locations[0].pdf_url | https://academic.oup.com/ajcp/article-pdf/164/Supplement_1/aqaf121.098/65270947/aqaf121.098.pdf |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | American Journal of Clinical Pathology |
| locations[0].landing_page_url | https://doi.org/10.1093/ajcp/aqaf121.098 |
| indexed_in | crossref |
| authorships[0].author.id | https://openalex.org/A2007935996 |
| authorships[0].author.orcid | https://orcid.org/0000-0001-5169-9067 |
| authorships[0].author.display_name | Rui Liang |
| authorships[0].countries | US |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I165951966 |
| authorships[0].affiliations[0].raw_affiliation_string | University of Texas Health Science Center at San Antonio , |
| authorships[0].institutions[0].id | https://openalex.org/I165951966 |
| authorships[0].institutions[0].ror | https://ror.org/https://ror.org/02f6dcw23 |
| authorships[0].institutions[0].type | education |
| authorships[0].institutions[0].lineage | https://openalex.org/I165951966 |
| authorships[0].institutions[0].country_code | US |
| authorships[0].institutions[0].display_name | The University of Texas Health Science Center at San Antonio |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Rui Liang |
| authorships[0].is_corresponding | True |
| authorships[0].raw_affiliation_strings | University of Texas Health Science Center at San Antonio , |
| authorships[1].author.id | https://openalex.org/A2718264649 |
| authorships[1].author.orcid | |
| authorships[1].author.display_name | Brian Faux |
| authorships[1].countries | US |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I165951966 |
| authorships[1].affiliations[0].raw_affiliation_string | University of Texas Health Science Center at San Antonio , |
| authorships[1].institutions[0].id | https://openalex.org/I165951966 |
| authorships[1].institutions[0].ror | https://ror.org/https://ror.org/02f6dcw23 |
| authorships[1].institutions[0].type | education |
| authorships[1].institutions[0].lineage | https://openalex.org/I165951966 |
| authorships[1].institutions[0].country_code | US |
| authorships[1].institutions[0].display_name | The University of Texas Health Science Center at San Antonio |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Brian Faux |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | University of Texas Health Science Center at San Antonio , |
| authorships[2].author.id | https://openalex.org/A4304607190 |
| authorships[2].author.orcid | |
| authorships[2].author.display_name | Katie Wiggins-Dohlvik |
| authorships[2].countries | US |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I165951966 |
| authorships[2].affiliations[0].raw_affiliation_string | University of Texas Health Science Center at San Antonio , |
| authorships[2].institutions[0].id | https://openalex.org/I165951966 |
| authorships[2].institutions[0].ror | https://ror.org/https://ror.org/02f6dcw23 |
| authorships[2].institutions[0].type | education |
| authorships[2].institutions[0].lineage | https://openalex.org/I165951966 |
| authorships[2].institutions[0].country_code | US |
| authorships[2].institutions[0].display_name | The University of Texas Health Science Center at San Antonio |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Katie Wiggins-Dohlvik |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | University of Texas Health Science Center at San Antonio , |
| authorships[3].author.id | https://openalex.org/A2023856972 |
| authorships[3].author.orcid | https://orcid.org/0000-0001-5001-6578 |
| authorships[3].author.display_name | Yu Zhang |
| authorships[3].countries | US |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I165951966 |
| authorships[3].affiliations[0].raw_affiliation_string | University of Texas Health Science Center at San Antonio , |
| authorships[3].institutions[0].id | https://openalex.org/I165951966 |
| authorships[3].institutions[0].ror | https://ror.org/https://ror.org/02f6dcw23 |
| authorships[3].institutions[0].type | education |
| authorships[3].institutions[0].lineage | https://openalex.org/I165951966 |
| authorships[3].institutions[0].country_code | US |
| authorships[3].institutions[0].display_name | The University of Texas Health Science Center at San Antonio |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Yu Zhang |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | University of Texas Health Science Center at San Antonio , |
| authorships[4].author.id | https://openalex.org/A2467366372 |
| authorships[4].author.orcid | https://orcid.org/0000-0002-9954-095X |
| authorships[4].author.display_name | Faqian Li |
| authorships[4].countries | US |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I165951966 |
| authorships[4].affiliations[0].raw_affiliation_string | University of Texas Health Science Center at San Antonio , |
| authorships[4].institutions[0].id | https://openalex.org/I165951966 |
| authorships[4].institutions[0].ror | https://ror.org/https://ror.org/02f6dcw23 |
| authorships[4].institutions[0].type | education |
| authorships[4].institutions[0].lineage | https://openalex.org/I165951966 |
| authorships[4].institutions[0].country_code | US |
| authorships[4].institutions[0].display_name | The University of Texas Health Science Center at San Antonio |
| authorships[4].author_position | last |
| authorships[4].raw_author_name | Faqian Li |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | University of Texas Health Science Center at San Antonio , |
| has_content.pdf | True |
| has_content.grobid_xml | False |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://academic.oup.com/ajcp/article-pdf/164/Supplement_1/aqaf121.098/65270947/aqaf121.098.pdf |
| open_access.oa_status | bronze |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-11-12T00:00:00 |
| display_name | 510 Ultrastructural and Molecular Correlation in a Pediatric Case of CLN6-Associated Neuronal Ceroid Lipofuscinoses (NCLs) |
| has_fulltext | False |
| is_retracted | False |
| updated_date | 2025-11-13T23:09:34.443669 |
| primary_topic.id | https://openalex.org/T10945 |
| primary_topic.field.id | https://openalex.org/fields/27 |
| primary_topic.field.display_name | Medicine |
| primary_topic.score | 0.8206000924110413 |
| primary_topic.domain.id | https://openalex.org/domains/4 |
| primary_topic.domain.display_name | Health Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/2737 |
| primary_topic.subfield.display_name | Physiology |
| primary_topic.display_name | Lysosomal Storage Disorders Research |
| cited_by_count | 0 |
| locations_count | 1 |
| best_oa_location.id | doi:10.1093/ajcp/aqaf121.098 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S15871148 |
| best_oa_location.source.issn | 0002-9173, 1943-7722 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | False |
| best_oa_location.source.issn_l | 0002-9173 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | American Journal of Clinical Pathology |
| best_oa_location.source.host_organization | https://openalex.org/P4310311648 |
| best_oa_location.source.host_organization_name | Oxford University Press |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310311648 |
| best_oa_location.license | |
| best_oa_location.pdf_url | https://academic.oup.com/ajcp/article-pdf/164/Supplement_1/aqaf121.098/65270947/aqaf121.098.pdf |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | American Journal of Clinical Pathology |
| best_oa_location.landing_page_url | https://doi.org/10.1093/ajcp/aqaf121.098 |
| primary_location.id | doi:10.1093/ajcp/aqaf121.098 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S15871148 |
| primary_location.source.issn | 0002-9173, 1943-7722 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | 0002-9173 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | American Journal of Clinical Pathology |
| primary_location.source.host_organization | https://openalex.org/P4310311648 |
| primary_location.source.host_organization_name | Oxford University Press |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310311648 |
| primary_location.license | |
| primary_location.pdf_url | https://academic.oup.com/ajcp/article-pdf/164/Supplement_1/aqaf121.098/65270947/aqaf121.098.pdf |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | American Journal of Clinical Pathology |
| primary_location.landing_page_url | https://doi.org/10.1093/ajcp/aqaf121.098 |
| publication_date | 2025-11-01 |
| publication_year | 2025 |
| referenced_works_count | 0 |
| abstract_inverted_index.a | 12, 26, 68, 79, 86, 93, 106, 146 |
| abstract_inverted_index.NA | 138 |
| abstract_inverted_index.We | 66 |
| abstract_inverted_index.as | 8 |
| abstract_inverted_index.be | 50 |
| abstract_inverted_index.by | 19 |
| abstract_inverted_index.in | 124, 149, 157, 180 |
| abstract_inverted_index.of | 14, 22, 29, 57, 95, 105, 131, 142, 153, 163, 178, 183 |
| abstract_inverted_index.on | 100 |
| abstract_inverted_index.to | 41, 53 |
| abstract_inverted_index.NCL | 35 |
| abstract_inverted_index.The | 161 |
| abstract_inverted_index.age | 56 |
| abstract_inverted_index.and | 31, 45, 59, 78, 92, 120, 172, 186 |
| abstract_inverted_index.can | 49 |
| abstract_inverted_index.due | 52 |
| abstract_inverted_index.the | 54, 151, 181 |
| abstract_inverted_index.CLN6 | 88 |
| abstract_inverted_index.Case | 135 |
| abstract_inverted_index.NCL, | 155 |
| abstract_inverted_index.NCL. | 132 |
| abstract_inverted_index.also | 6 |
| abstract_inverted_index.cell | 127 |
| abstract_inverted_index.from | 38 |
| abstract_inverted_index.rare | 121 |
| abstract_inverted_index.role | 148 |
| abstract_inverted_index.skin | 107, 126, 143 |
| abstract_inverted_index.with | 62, 72, 113 |
| abstract_inverted_index.early | 73 |
| abstract_inverted_index.known | 7 |
| abstract_inverted_index.onset | 58 |
| abstract_inverted_index.other | 63 |
| abstract_inverted_index.plays | 145 |
| abstract_inverted_index.prior | 80 |
| abstract_inverted_index.punch | 108 |
| abstract_inverted_index.trans | 101 |
| abstract_inverted_index.waste | 27 |
| abstract_inverted_index.Batten | 9 |
| abstract_inverted_index.Report | 134, 136 |
| abstract_inverted_index.autism | 81 |
| abstract_inverted_index.biopsy | 109, 144 |
| abstract_inverted_index.cases. | 160 |
| abstract_inverted_index.ceroid | 3, 24 |
| abstract_inverted_index.delays | 40 |
| abstract_inverted_index.female | 70 |
| abstract_inverted_index.lipids | 30 |
| abstract_inverted_index.report | 67 |
| abstract_inverted_index.speech | 74 |
| abstract_inverted_index.types, | 128 |
| abstract_inverted_index.(NCLs), | 5 |
| abstract_inverted_index.Genetic | 83 |
| abstract_inverted_index.Results | 137 |
| abstract_inverted_index.complex | 159 |
| abstract_inverted_index.disease | 179 |
| abstract_inverted_index.genetic | 187 |
| abstract_inverted_index.overlap | 61 |
| abstract_inverted_index.product | 28 |
| abstract_inverted_index.setting | 182 |
| abstract_inverted_index.testing | 84 |
| abstract_inverted_index.variant | 89, 94 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.Electron | 140 |
| abstract_inverted_index.Neuronal | 2 |
| abstract_inverted_index.alleles. | 102 |
| abstract_inverted_index.cellular | 23 |
| abstract_inverted_index.clinical | 60, 185 |
| abstract_inverted_index.complex, | 116, 169 |
| abstract_inverted_index.critical | 147 |
| abstract_inverted_index.decline, | 44 |
| abstract_inverted_index.disease, | 10 |
| abstract_inverted_index.profiles | 123, 174 |
| abstract_inverted_index.progress | 37 |
| abstract_inverted_index.provides | 175 |
| abstract_inverted_index.revealed | 110 |
| abstract_inverted_index.spectrum | 13 |
| abstract_inverted_index.variable | 55 |
| abstract_inverted_index.Diagnosis | 48 |
| abstract_inverted_index.cognitive | 43 |
| abstract_inverted_index.concerns, | 77 |
| abstract_inverted_index.diagnosis | 152 |
| abstract_inverted_index.different | 125, 164 |
| abstract_inverted_index.disorders | 17 |
| abstract_inverted_index.equivocal | 184 |
| abstract_inverted_index.findings. | 188 |
| abstract_inverted_index.including | 167 |
| abstract_inverted_index.inherited | 15 |
| abstract_inverted_index.lysosomal | 20 |
| abstract_inverted_index.profiles, | 119, 171 |
| abstract_inverted_index.proteins. | 32 |
| abstract_inverted_index.seizures. | 47 |
| abstract_inverted_index.typically | 36 |
| abstract_inverted_index.uncertain | 96 |
| abstract_inverted_index.4-year-old | 69 |
| abstract_inverted_index.Conclusion | 139 |
| abstract_inverted_index.behavioral | 76 |
| abstract_inverted_index.confirming | 150 |
| abstract_inverted_index.diagnosis. | 82 |
| abstract_inverted_index.diagnostic | 130 |
| abstract_inverted_index.disorders. | 65 |
| abstract_inverted_index.identified | 85 |
| abstract_inverted_index.inclusions | 112 |
| abstract_inverted_index.microscopy | 141 |
| abstract_inverted_index.occasional | 117 |
| abstract_inverted_index.pathogenic | 87 |
| abstract_inverted_index.pathologic | 176 |
| abstract_inverted_index.presenting | 71 |
| abstract_inverted_index.represents | 11 |
| abstract_inverted_index.ultimately | 46 |
| abstract_inverted_index.challenging | 51 |
| abstract_inverted_index.curvilinear | 122, 173 |
| abstract_inverted_index.examination | 104 |
| abstract_inverted_index.fingerprint | 118, 170 |
| abstract_inverted_index.genetically | 158 |
| abstract_inverted_index.inclusions, | 166 |
| abstract_inverted_index.lipofuscin, | 25 |
| abstract_inverted_index.lipopigment | 111 |
| abstract_inverted_index.rectilinear | 115, 168 |
| abstract_inverted_index.regression, | 42, 75 |
| abstract_inverted_index.CLN6-related | 154 |
| abstract_inverted_index.Methods/Case | 133 |
| abstract_inverted_index.accumulation | 21 |
| abstract_inverted_index.autolysosome | 165 |
| abstract_inverted_index.confirmation | 177 |
| abstract_inverted_index.p.Arg136Cys) | 91 |
| abstract_inverted_index.p.Phe166Ser) | 99 |
| abstract_inverted_index.particularly | 156 |
| abstract_inverted_index.significance | 97 |
| abstract_inverted_index.characterized | 18 |
| abstract_inverted_index.developmental | 39 |
| abstract_inverted_index.characteristic | 114 |
| abstract_inverted_index.identification | 162 |
| abstract_inverted_index.late-infantile | 34 |
| abstract_inverted_index.lipofuscinoses | 4 |
| abstract_inverted_index.CLN6-associated | 33 |
| abstract_inverted_index.Ultrastructural | 103 |
| abstract_inverted_index.morphologically | 129 |
| abstract_inverted_index.(c.406C>T, | 90 |
| abstract_inverted_index.(c.497T>C, | 98 |
| abstract_inverted_index.neurodegenerative | 16 |
| abstract_inverted_index.neurodevelopmental | 64 |
| abstract_inverted_index.Introduction/Objective | 1 |
| cited_by_percentile_year | |
| countries_distinct_count | 1 |
| institutions_distinct_count | 5 |
| citation_normalized_percentile.value | 0.7781348 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |