cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.3535/zqj-4p7-grn
title: Alchemilla glomerulans Buser

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqj-ney-bva
title: Juncus bulbosus L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqk-m8n-n3e
title: Atriplex glabriuscula Edmondston

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.15468/dl.tjchqj
title: Occurrence Download

description: A dataset listing the 556 species recorded in GBIF matching the query:
{
 "and" : [
 "BasisOfRecord is one of (Observation, Machine Observation, Human Observation)",
 "Geometry POLYGON((-16.42841 16.31601,-15.93498 16.31601,-15.93498 16.54584,-16.42841 16.54584,-16.42841 16.31601))",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "OccurrenceStatus is Present",
 "TaxonKey is Animalia",
 "Year 2004-2025"
 ]
}

 The dataset's 556 records were derived from 17 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0062950-251120083545085/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.3535/zql-aw3-96z
title: Platanthera bifolia (L.) Rich.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zql-eqd-pdy
title: Dianthus deltoides L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zql-g66-07q
title: Luzula sudetica (Willd.) Schult.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zql-hnn-nkm
title: Geum urbanum L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zql-mg4-4fa
title: Lathyrus japonicus var. maritimus (L.) J.T.Kartesz & Gandhi

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zql-w65-jga
title: Anthoxanthum australe (Schrad.) Veldkamp

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zql-wcm-ze4
title: Geum urbanum L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqm-49l-yg0
title: Butomus umbellatus L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqm-8dp-3e3
title: Salix myrtilloides L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zql-ps3-xv7
title: Chrysosplenium alternifolium L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqm-9mz-4mx
title: Urtica urens L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqm-bbk-gv2
title: Salix myrsinifolia subsp. borealis (Fr.) Hyl.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqm-lj2-h0w
title: Potamogeton rutilus Wolfg.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqm-ylz-wlq
title: Ranunculus acris L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.15468/7cza5j
title: Integrative taxonomy reveals mitochondrial introgression and Pleistocene diversification in Palearctic Agnocoris species (Insecta: Heteroptera: Miridae)

description: This dataset contains the digitized treatments in Plazi based on the original journal article Dzhelali, Polina A., Namyatova, Anna A. (2025): Integrative taxonomy reveals mitochondrial introgression and Pleistocene diversification in Palearctic Agnocoris species (Insecta: Heteroptera: Miridae). Zootaxa 5706 (4): 501-529, DOI: 10.11646/zootaxa.5706.4.3, URL: https://doi.org/10.11646/zootaxa.5706.4.3AbstractThe genus Agnocoris (Heteroptera: Miridae: Mirinae: Mirini) includes seven species and three of them, A. rubicundus, A. reclairei, and A. eduardi, are distributed in the Palearctic. This study represents the first integrative taxonomic assessment of Palearctic Agnocoris, combining morphological and molecular data (COI, 16S rRNA, ITS1, Ca-ATPase) to clarify species boundaries, phylogenetic relationships, and biogeographic history. This study showed that the three Palearctic species are very similar to each other externally, and male and female genitalia structures should be used for the correct species identification. A revised diagnosis and identification key for Palearctic Agnocoris representatives, as well as novel characters that can be used for the generic diagnosis, are provided. Phylogenetic analyses revealed discordance between mitochondrial and nuclear markers: mitochondrial data did not support the monophyly of A. rubicundus and A. reclairei, while nuclear markers confirmed their distinctiveness, suggesting historical mitochondrial introgression likely due to hybridization. The results showed that ITS1 was the most effective for the species identification and delimitation. Species delimitation methods based on this marker validated both species as separate. Divergence dating analysis suggests that Nearctic and Palearctic lineages of Agnocoris separated in Miocene. Our analysis demonstrated that A. rubicundus and A. reclairei most probably diverged ca. 1 Mya during the Pleistocene. Our findings emphasize the importance of integrative approach combining thorough morphological examinations and multiple genetic markers for accurate species delimitation in Miridae.
DOI: 10.3535/zqn-0kx-lby
title: Atocion rupestre (L.) Oxelman

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqn-247-7yq
title: Anthoxanthum australe (Schrad.) Veldkamp

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.5281/zenodo.18017779
title: SURPASS inventory of substances and their toxicity TEMPLATE
DOI: 10.5281/zenodo.18017780
title: SURPASS inventory of substances and their toxicity TEMPLATE
DOI: 10.3535/zqn-6ya-e2m
title: Stellaria longifolia (Regel) Muhl. ex Willd.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqn-92h-36p
title: Salix myrsinifolia × phylicifolia x myrsinifolia ssp. myrsinifolia × phylicifolia

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqn-btr-rq4
title: Najas marina L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.13140/rg.2.2.35833.62565
title: Cavally basin hydro climatic gridded data, monthly flow rates, GIS layers
DOI: 10.3535/zqn-j2b-p2w
title: Schoenus ferrugineus L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqn-x2l-fxz
title: Myosurus minimus L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqn-xa7-04d
title: Psammophiliella muralis (L.) Ikonn.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqn-yrz-sjn
title: Athyrium filix-femina (L.) Roth

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqm-rjs-v3y
title: Neottia nidus-avis (L.) Rich.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqp-2v4-gzl
title: Argentina anserina subsp. groenlandica (Tratt.) Á. Löve

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqn-ksm-577
title: Poa angustifolia L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqn-l2a-hrx
title: Carex disticha Huds.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqp-1jg-jpq
title: Carex echinata Murray

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.15468/dl.a8edvx
title: Occurrence Download

description: A dataset containing 15000237 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is Colaptes auratus",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "Geometry POLYGON((-180 -90, 180 -90, 180 90, -180 90, -180 -90))"
 ]
}

 The dataset includes 15000237 records from 177 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0062946-251120083545085/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.3535/zqp-c5g-br4
title: Trichophorum alpinum (L.) Pers.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqp-hx9-jrs
title: Carex oederi var. bergrothii (Palmgr.) Hedrén & Lassen

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqp-kj2-zpq
title: Poa annua L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqp-lnp-at1
title: Allium scorodoprasum L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqp-r89-101
title: Persicaria foliosa (H. Lindb.) Kitag.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqp-vt4-zfr
title: Isatis tinctoria L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqp-wn7-kj7
title: Drosera intermedia Hayne

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqp-y6v-dpa
title: Picea abies f. ssp. abies f. virgata

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqq-d4k-f7w
title: Viscaria alpina (L.) G. Don

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqq-h69-b3j
title: Carex livida (Wahlenb.) Willd.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqq-hwj-gj2
title: Rumex hydrolapathum (Scop.) Huds.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqq-tfe-ln6
title: Allium oleraceum L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqq-vee-1an
title: Viscaria alpina (L.) G. Don

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqq-xl1-21y
title: Alchemilla filicaulis Buser

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqr-1r1-n56
title: Drosera intermedia Hayne

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqr-2cm-1gf
title: Oxybasis Kar. & Kir.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqr-2r9-5vq
title: Arabis alpina L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqr-bka-vb7
title: Lolium perenne L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.23642/usn.25911751
title: Search strategies for a review article on how health professionals can promote meaning, sense of coherence and health for persons with dementia

description: DATASET MIGRATED FROM FIGSHARE: &lt;p dir="ltr"&gt;Search strategies for a review article on how health professionals can promote meaning, sense of coherence and health for persons with dementia are described.&lt;/p&gt;
DOI: 10.3535/zqr-d5x-tsz
title: Alchemilla subcrenata Buser

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.23642/usn.25911751/mfajli
title: Narrative_20240528.docx

description: Narrative_20240528.docx
DOI: 10.3535/zqr-jkj-p8g
title: Luzula multiflora (Ehrh.) Lej.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqr-nwx-hwa
title: Rhododendron tomentosum (Stokes) Harmaja

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.23642/usn.25911751/6q9zvg
title: Search histories_20240528.docx

description: Search histories_20240528.docx
DOI: 10.23642/usn.25911751/vnq3kp
title: Narrative_20240528.pdf

description: Narrative_20240528.pdf
DOI: 10.3535/zqr-zzy-hja
title: Hammarbya paludosa (L.) Kuntze

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqs-57f-f01
title: Poa compressa L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.23642/usn.25911751/zq8jps
title: Search histories_20240528.pdf

description: Search histories_20240528.pdf
DOI: 10.3535/zqs-5v4-jhq
title: Vicia tetrasperma (L.) Schreb.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqs-az4-xsn
title: Plantae

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqs-bdf-dtt
title: Stellaria longifolia (Regel) Muhl. ex Willd.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqs-ewq-7fl
title: Salix caprea L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqs-km4-lkq
title: Zannichellia palustris subsp. palustris

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqs-t4z-2c2
title: Rumex acetosella L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqs-v8s-he9
title: Poa compressa L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqs-vc4-2w2
title: Ranunculus schmalhausenii Luferov

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqs-x0j-aqw
title: Salix lapponum L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqs-xrl-vge
title: Carex disperma Dewey

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqs-ygl-fgc
title: Dianthus deltoides L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqr-kw7-pq4
title: Lepidium densiflorum Schrad.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqs-ckn-sdm
title: Alopecurus arundinaceus Poir.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqs-w9e-bet
title: Juncus filiformis L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqt-901-3zc
title: Ranunculus flammula L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqt-9fr-hjw
title: Salix phylicifolia L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqt-b5g-msb
title: Phalaris canariensis L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqt-vl7-m05
title: Arabidopsis × suecica (Fr.) Norrl.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqt-xsf-bd0
title: Plantae

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqv-5xg-c1c
title: Ribes spicatum subsp. lapponicum Hyl.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqv-6k8-btt
title: Lotus corniculatus L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqv-bmp-wck
title: Stellaria fennica (Murb.) Perfil.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqv-k74-fyd
title: Phalaris arundinacea L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqv-kn8-k7y
title: Trifolium campestre Schreb.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqv-kzs-d45
title: Milium effusum L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqv-nxp-y4m
title: Vicia cracca L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqv-r6f-x0g
title: Oxybasis rubra (L.) S. Fuentes, Uotila & Borsch

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqw-1tq-2z4
title: Ruppia maritima L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqt-93h-kqf
title: Neottia ovata (L.) Hartm.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqw-2qf-s62
title: Silene latifolia subsp. alba (Mill.) Greuter & Burdet

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqv-k0z-8vd
title: Plantae

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqw-mll-7d6
title: Chenopodium suecicum Murr

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqw-nx2-cjm
title: Spinulum annotinum subsp. annotinum

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqw-sdx-jng
title: Anemone nemorosa L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqw-w6z-0dv
title: Poa palustris L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqx-44h-6rr
title: Agrostis mertensii Trin.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqx-79x-qw5
title: Deschampsia cespitosa (L.) P.Beauv.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqx-bd1-7hb
title: Gypsophila vaccaria (L.) Sm.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqx-bl2-7j0
title: Neottia nidus-avis (L.) Rich.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqw-9e3-7d1
title: Lathyrus linifolius (Reichard) Bässler

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqx-bx7-76p
title: Melilotus officinalis (L.) Lam.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqw-bbz-50t
title: Sisymbrium altissimum L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqx-eqg-gwf
title: Lemna japonica Landolt

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.23642/usn.25959250
title: Hierarchical valuation of bio-products: proposed value-pyramid framework for organic compounds

description: DATASET MIGRATED FROM FIGSHARE: &lt;p dir="ltr"&gt;This supplementary material introduces a novel value-pyramid framework designed to categorize and evaluate different classes of organic compounds derived from biomass. The hierarchical structure of the value-pyramid emphasizes the economic and market value of bio-products, promoting a comprehensive understanding of their potential contributions to a circular bioeconomy. By systematically classifying organic compounds, the framework aids in identifying high-value bio-products and optimizing biomass conversion processes, thus supporting sustainable development and efficient resource utilization. The proposed model serves as a valuable tool for researchers, policymakers, and industry stakeholders in making informed decisions regarding bio-product development and utilization.&lt;/p&gt;
DOI: 10.23642/usn.25959250/bfgvu9
title: Enhanced value pyramid of bio-products - rev 0.pdf

description: Enhanced value pyramid of bio-products - rev 0.pdf
DOI: 10.23642/usn.25959250/yfo0g2
title: Hierarchical Valuation of Bio-Products - rev 0.pdf

description: Hierarchical Valuation of Bio-Products - rev 0.pdf
DOI: 10.23642/usn.25959250/o6w0vx
title: ReadMe.txt

description: ReadMe.txt
DOI: 10.5281/zenodo.18016540
title: Abcd

description: d
DOI: 10.3535/zqx-r83-23r
title: Chrysosplenium alternifolium L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.5281/zenodo.18016539
title: Abcd

description: d
DOI: 10.3535/zqx-s0f-0ak
title: Carex rostrata Stokes

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqx-sty-rda
title: Lepidium draba L.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqx-xrp-v19
title: Erodium cicutarium (L.) L'Hér.

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.3535/zqy-2bh-aep
title: Plantae

description: Digital Specimen for the physical specimen hosted at Finnish Museum of Natural History.
DOI: 10.6084/m9.figshare.30933032
title: Supplementary Material for: Congenital Erythropoietic Porphyria in a Neonate: Utility of Rapid Whole Genome Sequencing - A Case Report

description: Introduction: Congenital erythropoietic porphyria (CEP), especially neonatal-onset CEP, is an ultra-rare autosomal recessive disorder caused by variations in the UROS gene that may mimic severe systemic conditions, which can delay diagnosis.
Case Presentation: We report the case of a male neonate born with asphyxia, hepatosplenomegaly, cytopenia, and multiorgan dysfunction, initially suspected to have familial hemophagocytic lymphohistiocytosis. Targeted panels for familial hemophagocytic lymphohistiocytosis and autoinflammatory disorders yielded negative results. Red urine and photosensitive blistering lesions were observed. Rapid trio whole genome sequencing identified a homozygous NM_000375.3 (UROS):c.562G&gt;T (p.Gly188Trp) variant that had previously only been reported in compound heterozygous patients and classified as pathogenic in ClinVar (RCV000003959). Subsequent biochemical testing confirmed markedly elevated porphyrin levels, establishing a diagnosis of CEP. 
Conclusion: This case highlights the diagnostic challenges of neonatal CEP, where systemic illness may obscure the classical signs. This underscores the value of a genomics-first approach in critically ill neonates.