cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.30363628
title: Supplementary Material for: Phenotypic Divergence in Siblings with the Same Genotype: Diffuse Dermal Melanocytosis in Infantile-Onset Galactosialidosis

description: Background: Galactosialidosis (GS) is an ultra-rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in the CTSA gene. The resulting deficiency of protective protein/cathepsin A leads to reduced β-galactosidase and α-neuraminidase activity, causing multisystem involvement. While typical features include dysmorphic facies, organomegaly, skeletal dysplasia, and neurological impairment, dermatologic manifestations remain poorly characterized.
Case Presentation: We report a 9-month-old girl presenting with hepatosplenomegaly and diffuse dermal melanocytosis. Her history included non-immune hydrops fetalis, congenital cataract, developmental delay, and recurrent respiratory infections. Clinical and radiologic evaluation revealed coarse facial features, dysostosis multiplex, and periventricular white matter changes. Enzyme assay demonstrated markedly reduced β-galactosidase activity. Genetic testing identified a homozygous CTSA c.359T&gt;C (p.Ile120Thr) variant, classified as likely pathogenic. Family screening revealed her 10-year-old brother carried the same variant in homozygosity. He exhibited milder features, including developmental delay, hearing loss, and skeletal abnormalities without cutaneous involvement or organomegaly. Enzymatic deficiency was confirmed in both siblings.
Conclusion: This report highlights diffuse dermal melanocytosis as a possible novel cutaneous marker of galactosialidosis, potentially aiding early recognition. It also illustrates intrafamilial phenotypic variability despite identical genotypes. Our findings underscore the importance of dermatologic clues in the diagnostic workup of lysosomal storage disorders and advocate for family-based genetic screening to identify asymptomatic or mildly affected individuals.
DOI: 10.6084/m9.figshare.30363628.v1
title: Supplementary Material for: Phenotypic Divergence in Siblings with the Same Genotype: Diffuse Dermal Melanocytosis in Infantile-Onset Galactosialidosis

description: Background: Galactosialidosis (GS) is an ultra-rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in the CTSA gene. The resulting deficiency of protective protein/cathepsin A leads to reduced β-galactosidase and α-neuraminidase activity, causing multisystem involvement. While typical features include dysmorphic facies, organomegaly, skeletal dysplasia, and neurological impairment, dermatologic manifestations remain poorly characterized.
Case Presentation: We report a 9-month-old girl presenting with hepatosplenomegaly and diffuse dermal melanocytosis. Her history included non-immune hydrops fetalis, congenital cataract, developmental delay, and recurrent respiratory infections. Clinical and radiologic evaluation revealed coarse facial features, dysostosis multiplex, and periventricular white matter changes. Enzyme assay demonstrated markedly reduced β-galactosidase activity. Genetic testing identified a homozygous CTSA c.359T&gt;C (p.Ile120Thr) variant, classified as likely pathogenic. Family screening revealed her 10-year-old brother carried the same variant in homozygosity. He exhibited milder features, including developmental delay, hearing loss, and skeletal abnormalities without cutaneous involvement or organomegaly. Enzymatic deficiency was confirmed in both siblings.
Conclusion: This report highlights diffuse dermal melanocytosis as a possible novel cutaneous marker of galactosialidosis, potentially aiding early recognition. It also illustrates intrafamilial phenotypic variability despite identical genotypes. Our findings underscore the importance of dermatologic clues in the diagnostic workup of lysosomal storage disorders and advocate for family-based genetic screening to identify asymptomatic or mildly affected individuals.
DOI: 10.5517/cc92mgf
title: CCDC 270644: Experimental Crystal Structure Determination

description: Related Article: Bang-Tun Zhao, Jian-Ge Wang, Pu-Zhou Hu, Lu-Fang Ma, Li-Ya Wang|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2398|doi:10.1107/S1600536805020799
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gzc2
title: CCDC 282514: Experimental Crystal Structure Determination

description: Related Article: Neng-Xue Wang, Yan-Ping Luo, Qiong Chen, Guang-Fu Yang|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2332|doi:10.1107/S1600536805020246
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gzd3
title: CCDC 282515: Experimental Crystal Structure Determination

description: Related Article: Y.Lopez, R.Santillan, M.E.Ochoa, N.Farfan, E.V.Garcia-Baez, I.I.Padilla-Martinez|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2464|doi:10.1107/S1600536805021136
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gzf4
title: CCDC 282516: Experimental Crystal Structure Determination

description: Related Article: Yu-Quan Shi, Dan Xu, Bin Chen, Ming-Jian Cai, Yong Zhu|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2436|doi:10.1107/S1600536805021185
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.15468/dl.772fac
title: Occurrence Download

description: A dataset containing 19929 species occurrences available in GBIF matching the query:
{
 "DatasetKey" : [
 "is Global compendium of Aedes aegypti occurrence"
 ]
}

 The dataset includes 19929 records from 1 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0022896-251009101135966/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.5517/cc9gzg5
title: CCDC 282517: Experimental Crystal Structure Determination

description: Related Article: Guo-Qing Jiang, Yi-Zhi Li, Su-Na Wang, Fei-Fei Li, Zheng-Jiang Xu, Jun-Feng Bai|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|m1517|doi:10.1107/S1600536805021197
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gzh6
title: CCDC 282518: Experimental Crystal Structure Determination

description: Related Article: Fang-Zhong Hu, Min Zhang, Hai-Bin Song, Xiao-Mao Zou, Hua-Zheng Yang|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2486|doi:10.1107/S1600536805021173
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gzj7
title: CCDC 282519: Experimental Crystal Structure Determination

description: Related Article: N.Nakamura, A.Ohishi|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2447|doi:10.1107/S1600536805021379
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gzk8
title: CCDC 282520: Experimental Crystal Structure Determination

description: Related Article: M.S.M.Yusof, B.M.Yamin|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2433|doi:10.1107/S1600536805021124
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.6084/m9.figshare.30363631
title: Supplementary Material for: When Erectile Dysfunction Therapy Clouds the Vision: ST-BRVO After Sildenafil in a Healthy Male

description: Background:
Sildenafil, a widely prescribed phosphodiesterase-5 (PDE5) inhibitor for erectile dysfunction, is generally well-tolerated. However, ocular vascular complications—including non-arteritic anterior ischemic optic neuropathy (NAION), central serous chorioretinopathy, and retinal vein occlusion (RVO)—have been reported. Though rare, such events can occur even in individuals without conventional systemic risk factors.
Case Presentation:
A 55-year-old man with no prior medical history developed sudden, painless visual blurring in his right eye 48 hours after ingesting a single 100 mg dose of sildenafil. Clinical evaluation revealed a superotemporal branch retinal vein occlusion (ST-BRVO) with macular edema. A comprehensive systemic and hematologic workup, including thrombophilia screening and cardiac evaluation, yielded normal results. The patient was treated with an intravitreal injection of bevacizumab, leading to anatomical and visual improvement.
Conclusion:
This case draws attention to a possible association between sildenafil use and retinal vascular events, particularly BRVO, even in healthy individuals. The temporal proximity and absence of systemic risk factors suggest a potential dose-independent vascular susceptibility. Clinicians should be aware of this rare but potentially vision-threatening complication.
DOI: 10.6084/m9.figshare.30363631.v1
title: Supplementary Material for: When Erectile Dysfunction Therapy Clouds the Vision: ST-BRVO After Sildenafil in a Healthy Male

description: Background:
Sildenafil, a widely prescribed phosphodiesterase-5 (PDE5) inhibitor for erectile dysfunction, is generally well-tolerated. However, ocular vascular complications—including non-arteritic anterior ischemic optic neuropathy (NAION), central serous chorioretinopathy, and retinal vein occlusion (RVO)—have been reported. Though rare, such events can occur even in individuals without conventional systemic risk factors.
Case Presentation:
A 55-year-old man with no prior medical history developed sudden, painless visual blurring in his right eye 48 hours after ingesting a single 100 mg dose of sildenafil. Clinical evaluation revealed a superotemporal branch retinal vein occlusion (ST-BRVO) with macular edema. A comprehensive systemic and hematologic workup, including thrombophilia screening and cardiac evaluation, yielded normal results. The patient was treated with an intravitreal injection of bevacizumab, leading to anatomical and visual improvement.
Conclusion:
This case draws attention to a possible association between sildenafil use and retinal vascular events, particularly BRVO, even in healthy individuals. The temporal proximity and absence of systemic risk factors suggest a potential dose-independent vascular susceptibility. Clinicians should be aware of this rare but potentially vision-threatening complication.
DOI: 10.5517/cc98jjl
title: CCDC 276319: Experimental Crystal Structure Determination

description: Related Article: Guo-Dong Yin, Bao-Han Zhou, Yun-Feng Chen, An-Xin Wu|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2632|doi:10.1107/S1600536805022725
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gzl9
title: CCDC 282521: Experimental Crystal Structure Determination

description: Related Article: G.Ozdemir, S.Isik, K.Sancak, S.Sasmaz, N.T.Okumusoglu|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2699|doi:10.1107/S1600536805022853
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gzmb
title: CCDC 282522: Experimental Crystal Structure Determination

description: Related Article: J.Valdes-Martinez, S.Hernandez-Ortega, D.X.West, A.K.El-Sawaf, R.M.El-Bahanasawy, F.A.El-Saied|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|m1593|doi:10.1107/S1600536805022488
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gznc
title: CCDC 282523: Experimental Crystal Structure Determination

description: Related Article: Sai-Rong Fan, Long-Guan Zhu|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|m1598|doi:10.1107/S1600536805022920
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gzpd
title: CCDC 282524: Experimental Crystal Structure Determination

description: Related Article: Yun-Long Fu, Zhi-Wei Xu, Jia-Lin Ren, S.W.Ng|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|m1639|doi:10.1107/S1600536805023391
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gzqf
title: CCDC 282525: Experimental Crystal Structure Determination

description: Related Article: Yun-Long Fu, Zhi-Wei Xu, Jia-Lin Ren, S.W.Ng|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|m1641|doi:10.1107/S1600536805023408
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gzsh
title: CCDC 282527: Experimental Crystal Structure Determination

description: Related Article: Y.L.Dann, A.R.Cowley, H.L.Anderson|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2502|doi:10.1107/S1600536805021215
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gztj
title: CCDC 282528: Experimental Crystal Structure Determination

description: Related Article: Ju-Zhen Yuan, Yang-Gen Hu, Jia-Jia Wei, Ming-Wu Ding|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2640|doi:10.1107/S1600536805022749
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gzvk
title: CCDC 282529: Experimental Crystal Structure Determination

description: Related Article: Zheng Fan, Shang Shan, Duan-Jun Xu|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2758|doi:10.1107/S1600536805023949
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc7n5xy
title: CCDC 227940: Experimental Crystal Structure Determination

description: Related Article: M.Hemamalini, P.T.Muthiah, G.Bocelli, A.Cantoni|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2368|doi:10.1107/S1600536805020167
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc8l285
title: CCDC 255696: Experimental Crystal Structure Determination

description: Related Article: Guo-Wu Rao, Wei-Xiao Hu|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2431|doi:10.1107/S1600536805019653
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gzwl
title: CCDC 282530: Experimental Crystal Structure Determination

description: Related Article: Li Tian, Da-Xiang Wang|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2518|doi:10.1107/S1600536805021781
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc9gzxm
title: CCDC 282531: Experimental Crystal Structure Determination

description: Related Article: M.O.Awaleh, A.Badia, F.Brisse|2005|Acta Crystallogr.,Sect.E:Struct.Rep.Online|61|o2473|doi:10.1107/S1600536805020180
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc899nh
title: CCDC 247276: Experimental Crystal Structure Determination

description: Related Article: D.A.Ramirez, Jianxing Zhang, K.Klausmeyer, R.R.Kane|2005|J.Chem.Cryst.|35|227|doi:10.1007/s10870-005-2961-6
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc8yfsd
title: CCDC 266624: Experimental Crystal Structure Determination

description: Related Article: M.Isaka, S.Palasarn, P.Rachtawee, S.Vimuttipong, P.Kongsaeree|2005|Org.Lett.|7|2257|doi:10.1021/ol0507266
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc8w4kt
title: CCDC 264416: Experimental Crystal Structure Determination

description: Related Article: B.R.Buckley, P.C.B.Page, M.Edgar, M.R.J.Elsegood, C.M.Hayman, H.Heaney, G.A.Rassias, S.A.Talib, J.Liddle, S.A.Readshaw, C.J.Seaman|2005|Synlett|2005|0971|doi:10.1055/s-2005-864824
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc95lmn
title: CCDC 273501: Experimental Crystal Structure Determination

description: Related Article: O.Mamula, A.von Zelewsky, P.Brodard, C.-W.Schlapfer, G.Bernardinelli, H.Stoeckli-Evans|2005|Chem.-Eur.J.|11|3049|doi:10.1002/chem.200401109
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc8cg8b
title: CCDC 249341: Experimental Crystal Structure Determination

description: Related Article: R.Fujino, H.Nishino|2005|Synthesis|2005|731|doi:10.1055/s-2005-861807
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.