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The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening.

JIMD reports

Wilson C, Knoll D, de Hora M, Kyle C, Glamuzina E, Webster D.
PMID: 27928776
JIMD Rep. 2017;35:53-58. doi: 10.1007/8904_2016_25. Epub 2016 Dec 08.

New Zealand has undertaken expanded newborn screening since 2006. During that period there have been no reported cases of fatty acid oxidation disorders or organic acidemias that have been diagnosed clinically that the screening programme missed. However there may...

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Wilson C, Knoll D, de Hora M, et al. The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening. JIMD Rep. 2016;35:53-58doi: 10.1007/8904_2016_25.
Wilson, C., Knoll, D., de Hora, M., Kyle, C., Glamuzina, E., & Webster, D. (2017). The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening. JIMD reports, 3553-58. https://doi.org/10.1007/8904_2016_25
Wilson, Callum, et al. "The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening." JIMD reports vol. 35 (2017): 53-58. doi: https://doi.org/10.1007/8904_2016_25
Wilson C, Knoll D, de Hora M, Kyle C, Glamuzina E, Webster D. The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening. JIMD Rep. 2017;35:53-58. doi: 10.1007/8904_2016_25. Epub 2016 Dec 08. PMID: 27928776; PMCID: PMC5585106.
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Novel Drug Carrier: 5-Fluorouracil Formulation in Nanoporous Biogenic Mg-calcite from Blue Crab Shells-Proof of Concept.

ACS omega

Lazar G, Nekvapil F, Hirian R, Glamuzina B, Tamas T, Barbu-Tudoran L, Pinzaru SC.
PMID: 34722978
ACS Omega. 2021 Oct 11;6(42):27781-27790. doi: 10.1021/acsomega.1c03285. eCollection 2021 Oct 26.

The ever-growing demand for novel, cheaper, and more effective drugs has put nanomedicine and targeted drug delivery to the forefront of scientific innovation. Owing to its porous three-dimensional (3D)-nanostructure and properties, the biogenic calcite from wasted blue crab shells...

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Lazar G, Nekvapil F, Hirian R, et al. Novel Drug Carrier: 5-Fluorouracil Formulation in Nanoporous Biogenic Mg-calcite from Blue Crab Shells-Proof of Concept. ACS Omega. 2021;6(42):27781-27790doi: 10.1021/acsomega.1c03285.
Lazar, G., Nekvapil, F., Hirian, R., Glamuzina, B., Tamas, T., Barbu-Tudoran, L., & Pinzaru, S. C. (2021). Novel Drug Carrier: 5-Fluorouracil Formulation in Nanoporous Biogenic Mg-calcite from Blue Crab Shells-Proof of Concept. ACS omega, 6(42), 27781-27790. https://doi.org/10.1021/acsomega.1c03285
Lazar, Geza, et al. "Novel Drug Carrier: 5-Fluorouracil Formulation in Nanoporous Biogenic Mg-calcite from Blue Crab Shells-Proof of Concept." ACS omega vol. 6,42 (2021): 27781-27790. doi: https://doi.org/10.1021/acsomega.1c03285
Lazar G, Nekvapil F, Hirian R, Glamuzina B, Tamas T, Barbu-Tudoran L, Pinzaru SC. Novel Drug Carrier: 5-Fluorouracil Formulation in Nanoporous Biogenic Mg-calcite from Blue Crab Shells-Proof of Concept. ACS Omega. 2021 Oct 11;6(42):27781-27790. doi: 10.1021/acsomega.1c03285. eCollection 2021 Oct 26. PMID: 34722978; PMCID: PMC8552355.
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Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.

Case reports in genetics

Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K.
PMID: 26587300
Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26.

We describe two brothers who presented at birth with bone growth abnormalities, followed by development of increasingly severe intellectual and physical disability, growth restriction, epilepsy, and cerebellar and brain stem atrophy, but normal ocular phenotypes. Case 1 died at...

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Jacobsen JC, Glamuzina E, Taylor J, et al. Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. Case Rep Genet. 2015;2015:454526doi: 10.1155/2015/454526.
Jacobsen, J. C., Glamuzina, E., Taylor, J., Swan, B., Handisides, S., Wilson, C., Fietz, M., van Dijk, T., Appelhof, B., Hill, R., Marks, R., Love, D. R., Robertson, S. P., Snell, R. G., & Lehnert, K. (2015). Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. Case reports in genetics, 2015454526. https://doi.org/10.1155/2015/454526
Jacobsen, Jessie C, et al. "Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1." Case reports in genetics vol. 2015 (2015): 454526. doi: https://doi.org/10.1155/2015/454526
Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K. Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26. PMID: 26587300; PMCID: PMC4637447.
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Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.

Neurology. Genetics

Perrier S, Gauquelin L, Fallet-Bianco C, Dishop MK, Michell-Robinson MA, Tran LT, Guerrero K, Darbelli L, Srour M, Petrecca K, Renaud DL, Saito M, Cohen S, Leiz S, Alhaddad B, Haack TB, Tejera-Martin I, Monton FI, Rodriguez-Espinosa N, Pohl D, Nageswaran S, Grefe A, Glamuzina E, Bernard G.
PMID: 32582862
Neurol Genet. 2020 May 11;6(3):e425. doi: 10.1212/NXG.0000000000000425. eCollection 2020 Jun.

OBJECTIVE: To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with extremely severe phenotypes.METHODS: We performed an international cross-sectional study on patients with genetically proven POLR3-related leukodystrophy and atypical phenotypes...

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Perrier S, Gauquelin L, Fallet-Bianco C, et al. Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurol Genet. 2020;6(3):e425doi: 10.1212/NXG.0000000000000425.
Perrier, S., Gauquelin, L., Fallet-Bianco, C., Dishop, M. K., Michell-Robinson, M. A., Tran, L. T., Guerrero, K., Darbelli, L., Srour, M., Petrecca, K., Renaud, D. L., Saito, M., Cohen, S., Leiz, S., Alhaddad, B., Haack, T. B., Tejera-Martin, I., Monton, F. I., Rodriguez-Espinosa, N., Pohl, D., Nageswaran, S., Grefe, A., Glamuzina, E., & Bernard, G. (2020). Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurology. Genetics, 6(3), e425. https://doi.org/10.1212/NXG.0000000000000425
Perrier, Stefanie, et al. "Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy." Neurology. Genetics vol. 6,3 (2020): e425. doi: https://doi.org/10.1212/NXG.0000000000000425
Perrier S, Gauquelin L, Fallet-Bianco C, Dishop MK, Michell-Robinson MA, Tran LT, Guerrero K, Darbelli L, Srour M, Petrecca K, Renaud DL, Saito M, Cohen S, Leiz S, Alhaddad B, Haack TB, Tejera-Martin I, Monton FI, Rodriguez-Espinosa N, Pohl D, Nageswaran S, Grefe A, Glamuzina E, Bernard G. Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurol Genet. 2020 May 11;6(3):e425. doi: 10.1212/NXG.0000000000000425. eCollection 2020 Jun. PMID: 32582862; PMCID: PMC7238899.
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Rapid and Application-Tailored Assessment Tool for Biogenic Powders from Crustacean Shell Waste: Fourier Transform-Infrared Spectroscopy Complemented with X-ray Diffraction, Scanning Electron Microscopy, and Nuclear Magnetic Resonance Spectroscopy.

ACS omega

Ogresta L, Nekvapil F, Tǎmaş T, Barbu-Tudoran L, Suciu M, Hirian R, Aluaş M, Lazar G, Levei E, Glamuzina B, Pinzaru SC.
PMID: 34722977
ACS Omega. 2021 Oct 11;6(42):27773-27780. doi: 10.1021/acsomega.1c03279. eCollection 2021 Oct 26.

Due to their chemical composition, richness in calcium carbonate, chitin, proteins, and pigments, and nanoporous structure, crustacean shell waste shows great potential for a wide variety of applications. Large quantities of waste shells are produced annually, meaning that they...

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Ogresta L, Nekvapil F, Tǎmaş T, et al. Rapid and Application-Tailored Assessment Tool for Biogenic Powders from Crustacean Shell Waste: Fourier Transform-Infrared Spectroscopy Complemented with X-ray Diffraction, Scanning Electron Microscopy, and Nuclear Magnetic Resonance Spectroscopy. ACS Omega. 2021;6(42):27773-27780doi: 10.1021/acsomega.1c03279.
Ogresta, L., Nekvapil, F., Tǎmaş, T., Barbu-Tudoran, L., Suciu, M., Hirian, R., Aluaş, M., Lazar, G., Levei, E., Glamuzina, B., & Pinzaru, S. C. (2021). Rapid and Application-Tailored Assessment Tool for Biogenic Powders from Crustacean Shell Waste: Fourier Transform-Infrared Spectroscopy Complemented with X-ray Diffraction, Scanning Electron Microscopy, and Nuclear Magnetic Resonance Spectroscopy. ACS omega, 6(42), 27773-27780. https://doi.org/10.1021/acsomega.1c03279
Ogresta, Lovro, et al. "Rapid and Application-Tailored Assessment Tool for Biogenic Powders from Crustacean Shell Waste: Fourier Transform-Infrared Spectroscopy Complemented with X-ray Diffraction, Scanning Electron Microscopy, and Nuclear Magnetic Resonance Spectroscopy." ACS omega vol. 6,42 (2021): 27773-27780. doi: https://doi.org/10.1021/acsomega.1c03279
Ogresta L, Nekvapil F, Tǎmaş T, Barbu-Tudoran L, Suciu M, Hirian R, Aluaş M, Lazar G, Levei E, Glamuzina B, Pinzaru SC. Rapid and Application-Tailored Assessment Tool for Biogenic Powders from Crustacean Shell Waste: Fourier Transform-Infrared Spectroscopy Complemented with X-ray Diffraction, Scanning Electron Microscopy, and Nuclear Magnetic Resonance Spectroscopy. ACS Omega. 2021 Oct 11;6(42):27773-27780. doi: 10.1021/acsomega.1c03279. eCollection 2021 Oct 26. PMID: 34722977; PMCID: PMC8552322.
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An astounding masquerade.

Journal of lesbian studies

Glamuzina J.
PMID: 24807567
J Lesbian Stud. 2001;5(1):63-84. doi: 10.1300/J155v05n01_05.

SUMMARY This paper considers the contribution of historical accounts and case studies to the development of lesbian historical knowledge and the amplification of lesbian experience. The author suggests that historical endeavours need to position such accounts and assert lesbian...

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Glamuzina J. An astounding masquerade. J Lesbian Stud. 2001;5(1):63-84doi: 10.1300/J155v05n01_05.
Glamuzina, J. (2001). An astounding masquerade. Journal of lesbian studies, 5(1), 63-84. https://doi.org/10.1300/J155v05n01_05
Glamuzina, J. "An astounding masquerade." Journal of lesbian studies vol. 5,1 (2001): 63-84. doi: https://doi.org/10.1300/J155v05n01_05
Glamuzina J. An astounding masquerade. J Lesbian Stud. 2001;5(1):63-84. doi: 10.1300/J155v05n01_05. PMID: 24807567.
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The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.

JIMD reports

Sirrs S, Hollak C, Merkel M, Sechi A, Glamuzina E, Janssen MC, Lachmann R, Langendonk J, Scarpelli M, Ben Omran T, Mochel F, Tchan MC.
PMID: 26450566
JIMD Rep. 2016;27:85-91. doi: 10.1007/8904_2015_435. Epub 2015 Oct 09.

BACKGROUND: There are few centres which specialise in the care of adults with inborn errors of metabolism (IEM). To anticipate facilities and staffing needed at these centres, it is of interest to know the distribution of the different disorders.METHODS:...

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Sirrs S, Hollak C, Merkel M, et al. The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group. JIMD Rep. 2015;27:85-91doi: 10.1007/8904_2015_435.
Sirrs, S., Hollak, C., Merkel, M., Sechi, A., Glamuzina, E., Janssen, M. C., Lachmann, R., Langendonk, J., Scarpelli, M., Ben Omran, T., Mochel, F., & Tchan, M. C. (2016). The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group. JIMD reports, 2785-91. https://doi.org/10.1007/8904_2015_435
Sirrs, S, et al. "The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group." JIMD reports vol. 27 (2016): 85-91. doi: https://doi.org/10.1007/8904_2015_435
Sirrs S, Hollak C, Merkel M, Sechi A, Glamuzina E, Janssen MC, Lachmann R, Langendonk J, Scarpelli M, Ben Omran T, Mochel F, Tchan MC. The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group. JIMD Rep. 2016;27:85-91. doi: 10.1007/8904_2015_435. Epub 2015 Oct 09. PMID: 26450566; PMCID: PMC5580735.
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The aquaculture supply chain in the time of covid-19 pandemic: Vulnerability, resilience, solutions and priorities at the global scale.

Environmental science & policy

Mangano MC, Berlino M, Corbari L, Milisenda G, Lucchese M, Terzo S, Bosch-Belmar M, Azaza MS, Babarro JMF, Bakiu R, Broitman BR, Buschmann AH, Christofoletti R, Dong Y, Glamuzina B, Luthman O, Makridis P, Nogueira AJA, Palomo MG, Dineshram R, Sanchez-Jerez P, Sevgili H, Troell M, AbouelFadl KY, Azra MN, Britz P, Carrington E, Celić I, Choi F, Qin C, Dionísio MA, Dobroslavić T, Galli P, Giannetto D, Grabowski JH, Helmuth B, Lebata-Ramos MJH, Lim PT, Liu Y, Llorens SM, Mirto S, Pećarević M, Pita C, Ragg N, Ravagnan E, Saidi D, Schultz K, Shaltout M, Tan SH, Thiyagarajan V, Sarà G.
PMID: 34720746
Environ Sci Policy. 2022 Jan;127:98-110. doi: 10.1016/j.envsci.2021.10.014. Epub 2021 Oct 27.

The COVID-19 global pandemic has had severe, unpredictable and synchronous impacts on all levels of perishable food supply chains (PFSC), across multiple sectors and spatial scales. Aquaculture plays a vital and rapidly expanding role in food security, in some...

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Mangano MC, Berlino M, Corbari L, et al. The aquaculture supply chain in the time of covid-19 pandemic: Vulnerability, resilience, solutions and priorities at the global scale. Environ Sci Policy. 2021;127:98-110doi: 10.1016/j.envsci.2021.10.014.
Mangano, M. C., Berlino, M., Corbari, L., Milisenda, G., Lucchese, M., Terzo, S., Bosch-Belmar, M., Azaza, M. S., Babarro, J. M. F., Bakiu, R., Broitman, B. R., Buschmann, A. H., Christofoletti, R., Dong, Y., Glamuzina, B., Luthman, O., Makridis, P., Nogueira, A. J. A., Palomo, M. G., Dineshram, R., Sanchez-Jerez, P., Sevgili, H., Troell, M., AbouelFadl, K. Y., Azra, M. N., Britz, P., Carrington, E., Celić, I., Choi, F., Qin, C., Dionísio, M. A., Dobroslavić, T., Galli, P., Giannetto, D., Grabowski, J. H., Helmuth, B., Lebata-Ramos, M. J. H., Lim, P. T., Liu, Y., Llorens, S. M., Mirto, S., Pećarević, M., Pita, C., Ragg, N., Ravagnan, E., Saidi, D., Schultz, K., Shaltout, M., Tan, S. H., Thiyagarajan, V., & Sarà, G. (2022). The aquaculture supply chain in the time of covid-19 pandemic: Vulnerability, resilience, solutions and priorities at the global scale. Environmental science & policy, 12798-110. https://doi.org/10.1016/j.envsci.2021.10.014
Mangano, M C, et al. "The aquaculture supply chain in the time of covid-19 pandemic: Vulnerability, resilience, solutions and priorities at the global scale." Environmental science & policy vol. 127 (2022): 98-110. doi: https://doi.org/10.1016/j.envsci.2021.10.014
Mangano MC, Berlino M, Corbari L, Milisenda G, Lucchese M, Terzo S, Bosch-Belmar M, Azaza MS, Babarro JMF, Bakiu R, Broitman BR, Buschmann AH, Christofoletti R, Dong Y, Glamuzina B, Luthman O, Makridis P, Nogueira AJA, Palomo MG, Dineshram R, Sanchez-Jerez P, Sevgili H, Troell M, AbouelFadl KY, Azra MN, Britz P, Carrington E, Celić I, Choi F, Qin C, Dionísio MA, Dobroslavić T, Galli P, Giannetto D, Grabowski JH, Helmuth B, Lebata-Ramos MJH, Lim PT, Liu Y, Llorens SM, Mirto S, Pećarević M, Pita C, Ragg N, Ravagnan E, Saidi D, Schultz K, Shaltout M, Tan SH, Thiyagarajan V, Sarà G. The aquaculture supply chain in the time of covid-19 pandemic: Vulnerability, resilience, solutions and priorities at the global scale. Environ Sci Policy. 2022 Jan;127:98-110. doi: 10.1016/j.envsci.2021.10.014. Epub 2021 Oct 27. PMID: 34720746; PMCID: PMC8548891.
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New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.

Journal of inherited metabolic disease

Ryder B, Inbar-Feigenberg M, Glamuzina E, Halligan R, Vara R, Elliot A, Coman D, Minto T, Lewis K, Schiff M, Vijay S, Akroyd R, Thompson S, MacDonald A, Woodward AJM, Gribben JEL, Grunewald S, Belaramani K, Hall M, van der Haak N, Devanapalli B, Tolun AA, Wilson C, Bhattacharya K.
PMID: 33634872
J Inherit Metab Dis. 2021 Jul;44(4):903-915. doi: 10.1002/jimd.12371. Epub 2021 Mar 29.

Carnitine acyl-carnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial long-chain fatty-acid transport. Most patients present in the first 2 days of life, with hypoketotic hypoglycaemia, hyperammonaemia, cardiomyopathy or arrhythmia, hepatomegaly and elevated liver enzymes. Multi-centre...

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Ryder B, Inbar-Feigenberg M, Glamuzina E, et al. New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches. J Inherit Metab Dis. 2021;44(4):903-915doi: 10.1002/jimd.12371.
Ryder, B., Inbar-Feigenberg, M., Glamuzina, E., Halligan, R., Vara, R., Elliot, A., Coman, D., Minto, T., Lewis, K., Schiff, M., Vijay, S., Akroyd, R., Thompson, S., MacDonald, A., Woodward, A. J. M., Gribben, J. E. L., Grunewald, S., Belaramani, K., Hall, M., van der Haak, N., Devanapalli, B., Tolun, A. A., Wilson, C., & Bhattacharya, K. (2021). New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches. Journal of inherited metabolic disease, 44(4), 903-915. https://doi.org/10.1002/jimd.12371
Ryder, Bryony, et al. "New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches." Journal of inherited metabolic disease vol. 44,4 (2021): 903-915. doi: https://doi.org/10.1002/jimd.12371
Ryder B, Inbar-Feigenberg M, Glamuzina E, Halligan R, Vara R, Elliot A, Coman D, Minto T, Lewis K, Schiff M, Vijay S, Akroyd R, Thompson S, MacDonald A, Woodward AJM, Gribben JEL, Grunewald S, Belaramani K, Hall M, van der Haak N, Devanapalli B, Tolun AA, Wilson C, Bhattacharya K. New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches. J Inherit Metab Dis. 2021 Jul;44(4):903-915. doi: 10.1002/jimd.12371. Epub 2021 Mar 29. PMID: 33634872.
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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Human mutation

Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H.
PMID: 34989426
Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analysing...

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Scala M, Wortmann SB, Kaya N, et al. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022;doi: 10.1002/humu.24326.
Scala, M., Wortmann, S. B., Kaya, N., Stellingwerff, M. D., Pistorio, A., Glamuzina, E., van Karnebeek, C. D., Skrypnyk, C., Iwanicka-Pronicka, K., Piekutowska-Abramczuk, D., Ciara, E., Tort, F., Sheidley, B., Poduri, A., Jayakar, P., Jayakar, A., Upadia, J., Walano, N., Haack, T. B., Prokisch, H., Aldhalaan, H., Karimiani, E. G., Yildiz, Y., Ceylan, A. C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M. B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H. S., Maqbool, S., Farid, A., Al-Muhaizea, M. A., Alshwameen, M. O., Aldowsari, L., Alsagob, M., Alyousef, A., AlMass, R., AlHargan, A., Alwadei, A. H., AlRasheed, M. M., Colak, D., Alqudairy, H., Khan, S., Lines, M. A., García Cazorla, M. �. �., Ribes, A., Morava, E., Bibi, F., Haider, S., Ferla, M. P., Taylor, J. C., Alsaif, H. S., Firdous, A., Hashem, M., Shashkin, C., Koneev, K., Kaiyrzhanov, R., Efthymiou, S., Genomics, Q. S., Schmitt-Mechelke, T., Ziegler, A., Issa, M. Y., Elbendary, H. M., Striano, P., Alkuraya, F. S., Zaki, M. S., Gleeson, J. G., Barakat, T. S., Bierau, J., van der Knaap, M. S., Maroofian, R., & Houlden, H. (2022). Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Human mutation, . https://doi.org/10.1002/humu.24326
Scala, Marcello, et al. "Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency." Human mutation vol. (2022). doi: https://doi.org/10.1002/humu.24326
Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06. PMID: 34989426.
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Wasted Biomaterials from Crustaceans as a Compliant Natural Product Regarding Microbiological, Antibacterial Properties and Heavy Metal Content for Reuse in Blue Bioeconomy: A Preliminary Study.

Materials (Basel, Switzerland)

Nekvapil F, Ganea IV, Ciorîță A, Hirian R, Ogresta L, Glamuzina B, Roba C, Cintă Pinzaru S.
PMID: 34443081
Materials (Basel). 2021 Aug 13;14(16). doi: 10.3390/ma14164558.

The compliance of crab shells traditionally used as a complex natural product for agricultural soil amendment with modern biofertilizers' quality and safety requirements was investigated. Shells waste from the Blue crab,

Cite
Nekvapil F, Ganea IV, Ciorîță A, et al. Wasted Biomaterials from Crustaceans as a Compliant Natural Product Regarding Microbiological, Antibacterial Properties and Heavy Metal Content for Reuse in Blue Bioeconomy: A Preliminary Study. Materials (Basel). 2021;14(16)doi: 10.3390/ma14164558.
Nekvapil, F., Ganea, I. V., Ciorîță, A., Hirian, R., Ogresta, L., Glamuzina, B., Roba, C., & Cintă Pinzaru, S. (2021). Wasted Biomaterials from Crustaceans as a Compliant Natural Product Regarding Microbiological, Antibacterial Properties and Heavy Metal Content for Reuse in Blue Bioeconomy: A Preliminary Study. Materials (Basel, Switzerland), 14(16), . https://doi.org/10.3390/ma14164558
Nekvapil, Fran, et al. "Wasted Biomaterials from Crustaceans as a Compliant Natural Product Regarding Microbiological, Antibacterial Properties and Heavy Metal Content for Reuse in Blue Bioeconomy: A Preliminary Study." Materials (Basel, Switzerland) vol. 14,16 (2021). doi: https://doi.org/10.3390/ma14164558
Nekvapil F, Ganea IV, Ciorîță A, Hirian R, Ogresta L, Glamuzina B, Roba C, Cintă Pinzaru S. Wasted Biomaterials from Crustaceans as a Compliant Natural Product Regarding Microbiological, Antibacterial Properties and Heavy Metal Content for Reuse in Blue Bioeconomy: A Preliminary Study. Materials (Basel). 2021 Aug 13;14(16). doi: 10.3390/ma14164558. PMID: 34443081; PMCID: PMC8399662.
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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Human mutation

Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H.
PMID: 34989426
Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing...

Cite
Scala M, Wortmann SB, Kaya N, et al. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022;doi: 10.1002/humu.24326.
Scala, M., Wortmann, S. B., Kaya, N., Stellingwerff, M. D., Pistorio, A., Glamuzina, E., van Karnebeek, C. D., Skrypnyk, C., Iwanicka-Pronicka, K., Piekutowska-Abramczuk, D., Ciara, E., Tort, F., Sheidley, B., Poduri, A., Jayakar, P., Jayakar, A., Upadia, J., Walano, N., Haack, T. B., Prokisch, H., Aldhalaan, H., Karimiani, E. G., Yildiz, Y., Ceylan, A. C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M. B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H. S., Maqbool, S., Farid, A., Al-Muhaizea, M. A., Alshwameen, M. O., Aldowsari, L., Alsagob, M., Alyousef, A., AlMass, R., AlHargan, A., Alwadei, A. H., AlRasheed, M. M., Colak, D., Alqudairy, H., Khan, S., Lines, M. A., García Cazorla, M. �. �., Ribes, A., Morava, E., Bibi, F., Haider, S., Ferla, M. P., Taylor, J. C., Alsaif, H. S., Firdous, A., Hashem, M., Shashkin, C., Koneev, K., Kaiyrzhanov, R., Efthymiou, S., Genomics, Q. S., Schmitt-Mechelke, T., Ziegler, A., Issa, M. Y., Elbendary, H. M., Striano, P., Alkuraya, F. S., Zaki, M. S., Gleeson, J. G., Barakat, T. S., Bierau, J., van der Knaap, M. S., Maroofian, R., & Houlden, H. (2022). Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Human mutation, . https://doi.org/10.1002/humu.24326
Scala, Marcello, et al. "Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency." Human mutation vol. (2022). doi: https://doi.org/10.1002/humu.24326
Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06. PMID: 34989426.
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