المؤلفون: Fisher, A., Boruah, R., Mayne, P.D., Monavari, A.A., Crushell, E., Knerr, I.

المصدر: Molecular Genetics and Metabolism Reports ; volume 42, page 101185 ; ISSN 2214-4269

الاتاحة: https://doi.org/10.1016/j.ymgmr.2024.101185
https://api.elsevier.com/content/article/PII:S2214426924001381?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426924001381?httpAccept=text/plain

المؤلفون: Keller, R, Chrastina, P, Pavlikova, M, Gouveia, S, Ribes, A, Kolker, S, Blom, HJ, Baumgartner, MR, Bartl, J, Dionisi-Vici, C, Gleich, F, Morris, AA, Kozich, V, Huemer, M, Baric, I, Ben-Omran, T, Blasco-Alonso, J, Delgado, MA, Carducci, C, Cassanello, M, Cerone, R, Couce, ML, Crushell, E, Pecellin, CD, Dulin, E, Espada, M, Ferino, G, Fingerhut, R, Jimenez, IG, Gallego, IG, Gonzalez-Irazabal, Y, Gramer, G, Fita, MJJ, Karg, E, Klein, J, Konstantopoulou, V, la Marca, G, Teles, EL, Leuzzi, V, Lilliu, F, Lopez, RM, Lund, AM, Mayne, P, Meavilla, S, Moat, SJ, Okun, JG, Pasquini, E, Pedron-Giner, CC, Racz, GZ, Gomez, MAR, Vilarinho, L, Yahyaoui, R, Tansek, MZ, Zetterstrom, RH, Zeyda, M

المصدر: Journal of inherited metabolic disease. 42(1):128-139

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140235248

المؤلفون: Hammann, N., Lenz, D., Baric, I., Crushell, E., Vici, C.D., Distelmaier, F., Feillet, F., Freisinger, P., Hempel, M., Khoreva, A.L., Laass, M.W., Lacassie, Y., Lainka, E., Larson-Nath, C., Li, Z., Lipiński, P., Lurz, E., Mégarbané, A., Nobre, S., Olivieri, G., Peters, B., Prontera, P., Schlieben, L.D., Seroogy, C.M., Sobacchi, C., Suzuki, S., Tran, C., Vockley, J., Wang, J.S., Wagner, M., Prokisch, H., Garbade, S.F., Kölker, S., Hoffmann, G.F., Staufner, C.

المصدر: Molecular genetics and metabolism, vol. 141, no. 3, pp. 108118

مصطلحات موضوعية: Humans, Phenotype, Pelger-Huet Anomaly/complications, Pelger-Huet Anomaly/genetics, Pelger-Huet Anomaly/pathology, Liver Failure, Acute/genetics, Mutation, Missense, Neuroblastoma/complications, Genotype-phenotype correlation, ILFS2, NBAS, Recurrent acute liver failure, SOPH

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/38244286; info:eu-repo/semantics/altIdentifier/eissn/1096-7206; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C34190170CCC7; https://serval.unil.ch/notice/serval:BIB_C34190170CCC; https://serval.unil.ch/resource/serval:BIB_C34190170CCC.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_C34190170CCC
https://doi.org/10.1016/j.ymgme.2023.108118
https://serval.unil.ch/resource/serval:BIB_C34190170CCC.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C34190170CCC7

المؤلفون: Gruenert, SC, Gautschi, M, Baker, J, Boyer, M, Burlina, A, Casswall, T, Corpeleijn, W, Ciki, K, Cotter, M, Crushell, E, Derks, TGJ, Haas, D, Kilavuz, S, Kingma, SDK, Korman, SH, Kozek, A, de Laet, C, Mundy, H, Nassogne, MC, Quintero, V, Rossi, A, Spenger, J, Spiegel, R, Stephenne, X, Stojkov, D, Tal, G, Cunha, MVD, Wortmann, SB

المصدر: Molecular genetics and metabolism. 142(2):108486

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:158903598

المؤلفون: Bolton, SC, Soran, V, Marfa, MP, Imrie, J, Gissen, P, Jahnova, H, Sharma, R, Jones, S, Santra, S, Crushell, E, Stampfer, M, Coll, MJ, Dawson, C, Mathieson, T, Green, J, Dardis, A, Bembi, B, Patterson, MC, Vanier, MT, Geberhiwot, T

المصدر: Orphanet Journal of Rare Diseases , 17 (1) , Article 51. (2022)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10144626/1/s13023-022-02200-4.pdf; https://discovery.ucl.ac.uk/id/eprint/10144626/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10144626/1/s13023-022-02200-4.pdf
https://discovery.ucl.ac.uk/id/eprint/10144626/

المؤلفون: Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, Burnyte B, Calvo PL, Crushell E, Dalgic B, Das AM, Dezsofi A, Distelmaier F, Fichtner A, Freisinger P, Garbade SF, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kirsaclioglu CT, Knoppke B, Kohl M, Kolbel H, Kolker S, Konstantopoulou V, Krylova T, Kuloglu Z, Kuster A, Laass MW, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr JA, McKiernan P, McClean P, McLin V, Mention K, Muller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petkovic Ramadza D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor RW, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel G-F, Wagner M, Van Der Woerd W, Wortmann SB, Zakharova E, Hoffmann GF, Meitinger T, Murayama K, Staufner C, Prokisch H

المصدر: Hepatology, May 2024

Relation: https://eprints.ncl.ac.uk/298135

الاتاحة: https://eprints.ncl.ac.uk/298135

المؤلفون: Somanadhan, S., Bristow, H., Crushell, E., Pastores, G., Nicholson, E., Kroll, T., Larkin, P.J., Brinkley, A.

المصدر: Therapeutic advances in rare disease, vol. 2, pp. 26330040211020764

مصطلحات موضوعية: children, mucopolysaccharidoses, multiple-method, paediatric inventory for parents, parent, qualitative research, quality of life, resilience scale, young adults

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/37181103; info:eu-repo/semantics/altIdentifier/eissn/2633-0040; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_22C73E70C53F2; https://serval.unil.ch/notice/serval:BIB_22C73E70C53F; https://serval.unil.ch/resource/serval:BIB_22C73E70C53F.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_22C73E70C53F
https://doi.org/10.1177/26330040211020764
https://serval.unil.ch/resource/serval:BIB_22C73E70C53F.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_22C73E70C53F2

المؤلفون: Lenz, D., Pahl, J., Hauck, F., Alameer, S., Balasubramanian, M., Baric, I., Boy, N., Church, J.A., Crushell, E., Dick, A., Distelmaier, F., Gujar, J., Indolfi, G., Lurz, E., Peters, B., Schwerd, T., Serranti, D., Kölker, S., Klein, C., Hoffmann, G.F., Prokisch, H., Greil, J., Cerwenka, A., Giese, T., Staufner, C.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/177468/7/Lenz2021_Article_NBASVariantsAreAssociatedWithQ.pdf; Lenz, D., Pahl, J., Hauck, F. et al. (22 more authors) (2021) NBAS variants are associated with quantitative and qualitative NK and B cell deficiency. Journal of Clinical Immunology, 41 (8). pp. 1781-1793. ISSN 0271-9142

الاتاحة: https://eprints.whiterose.ac.uk/177468/
https://eprints.whiterose.ac.uk/177468/7/Lenz2021_Article_NBASVariantsAreAssociatedWithQ.pdf

المؤلفون: Lenz, D., Smith, D.E.C., Crushell, E., Husain, R.A., Salomons, G.S., Alhaddad, B., Bernstein, J.A., Bianzano, A., Biskup, S., Brennenstuhl, H., Caldari, D., Dikow, N., Haack, T.B., Hanson-Kahn, A., Harting, I., Horn, D., Hughes, J., Huijberts, M., Isidor, B., Kathemann, S., Kopajtich, R., Kotzaeridou, U., Küry, S., Lainka, E., Laugwitz, L., Lupski, J.R., Posey, J.E., Reynolds, C., Rosenfeld, J.A., Schröter, J., Vansenne, F., Wagner, M., Weiß, C., Wolffenbuttel, B.H.R., Wortmann, S.B., Kölker, S., Hoffmann, G.F., Prokisch, H., Mendes, M.I., Staufner, C.

المصدر: Genet. Med. 22, 1863-1873 (2020)

مصطلحات موضوعية: Lars1, Infantile Liver Failure Syndrome Type 1, Acute Liver Failure, Aminoacyl-trna Synthetase Deficiency, Metabolic Stroke

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/32699352; info:eu-repo/semantics/altIdentifier/wos/WOS:000551406500001; info:eu-repo/semantics/altIdentifier/isbn/1098-3600; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59757; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59757
https://doi.org/10.1038/s41436-020-0904-4

المؤلفون: Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J.A., Crushell, E., Dalgıç, B., Das, A.M., Dick, A., Dikow, N., Dionisi-Vici, C., Distelmaier, F., Bozbulut, N.E., Feillet, F., Gonzales, E., Hadzic, N., Hauck, F., Hegarty, R., Hempel, M., Herget, T., Klein, C., Konstantopoulou, V., Kopajtich, R., Kuster, A., Laass, M.W., Lainka, E., Larson-Nath, C., Leibner, A., Lurz, E., Mayr, J.A., McKiernan, P.J., Mention, K., Moog, U., Mungan, N.O., Riedhammer, K.M., Santer, R., Palafoll, I.V., Vockley, J., Westphal, D.S., Wiedemann, A., Wortmann, S.B., Diwan, G.D., Russell, R.B., Prokisch, H., Garbade, S.F., Kölker, S., Hoffmann, G.F., Lenz, D.

المصدر: Genet. Med. 22, 610-621 (2020)

مصطلحات موضوعية: Nbas, Infantile Liver Failure Syndrome Type 2, Soph Syndrome, Acute Liver Failure, Ralf

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/31761904; info:eu-repo/semantics/altIdentifier/wos/WOS:000518171700018; info:eu-repo/semantics/altIdentifier/isbn/1098-3600; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57419; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57419
https://doi.org/10.1038/s41436-019-0698-4

المؤلفون: Lenz, D., Schlieben, L.D., Shimura, M., Bianzano, A., Smirnov, D., Kopajtich, R., Berutti, R., Adam, R., Aldrian, D., Baric, I., Baumann, U., Bozbulut, N.E., Brugger, M., Brunet, T., Bufler, P., Burnyte, B., Calvo, P.L., Crushell, E., Dalgıç, B., Das, A.M., Dezsőfi, A., Distelmaier, F., Fichtner, A., Freisinger, P., Garbade, S.F., Gaspar, H., Goujon, L., Hadzic, N., Hartleif, S., Hegen, B., Hempel, M., Henning, S., Hoerning, A., Houwen, R., Hughes, J., Iorio, R., Iwanicka-Pronicka, K., Jankofsky, M., Junge, N., Kanavaki, I., Kansu, A., Kaspar, S., Kathemann, S., Kelly, D., Kırsaçlıoğlu, C.T., Knoppke, B., Kohl, M., Kölbel, H., Kolker, S., Konstantopoulou, V., Krylova, T., Kuloglu, Z., Kuster, A., Laass, M.W., Lainka, E., Lurz, E., Mandel, H., Mayerhanser, K., Mayr, J.A., McKiernan, P., McLean, P., McLin, V., Mention, K., Müller, H., Pasquier, L., Pavlov, M., Pechatnikova, N., Peters, B., Petkovic Ramadža, D., Piekutowska-Abramczuk, D., Pilic, D., Rajwal, S., Rock, N., Roetig, A., Santer, R., Schenk, W., Semenova, N., Sokollik, C., Sturm, E., Taylor, R.W., Tschiedel, E., Urbonas, V., Urreizti, R., Vermehren, J., Vockley, J., Vogel, G.F., Wagner, M., van der Woerd, W., Wortmann, S., Zakharova, E., Hoffmann, G.F., Meitinger, T., Murayama, K., Staufner, C., Prokisch, H.

المصدر: Hepatology 79, 1075-1087 (2023)

Relation: info:eu-repo/semantics/altIdentifier/pmid/37976411; info:eu-repo/semantics/altIdentifier/isbn/0270-9139; info:eu-repo/semantics/altIdentifier/pissn/0270-9139; info:eu-repo/semantics/altId

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68766
https://doi.org/10.1097/HEP.0000000000000684

المؤلفون: Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PD

المصدر: American Journal of Medical Genetics, Part A, 2018

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/247287; https://eprints.ncl.ac.uk/fulltext.aspx?url=247287/A419AC45-64B8-44F1-A7CB-FD6A13F5377C.pdf&pub_id=247287

الاتاحة: https://eprints.ncl.ac.uk/247287

المؤلفون: Geberhiwot, T, Moro, A, Dardis, A, Ramaswami, U, Sirrs, S, Marfa, MP, Vanier, MT, Walterfang, M, Bolton, S, Dawson, C, Heron, B, Stampfer, M, Imrie, J, Hendriksz, C, Gissen, P, Crushell, E, Coll, MJ, Nadjar, Y, Kluenemann, H, Mengel, E, Hrebicek, M, Jones, SA, Ory, D, Bembi, B, Patterson, M

Relation: pii: 10.1186/s13023-018-0785-7; Geberhiwot, T., Moro, A., Dardis, A., Ramaswami, U., Sirrs, S., Marfa, M. P., Vanier, M. T., Walterfang, M., Bolton, S., Dawson, C., Heron, B., Stampfer, M., Imrie, J., Hendriksz, C., Gissen, P., Crushell, E., Coll, M. J., Nadjar, Y., Kluenemann, H. ,. Patterson, M. (2018). Consensus clinical management guidelines for Niemann-Pick disease type C. ORPHANET JOURNAL OF RARE DISEASES, 13 (1), https://doi.org/10.1186/s13023-018-0785-7.; http://hdl.handle.net/11343/254768

الاتاحة: http://hdl.handle.net/11343/254768

المؤلفون: Fitzsimons, PE, Alston, CL, Bonnen, PE, Hughes, J, Crushell, E, Geraghty, MT, Tetreault, M, O'Reilly, P, Twomey, E, Sheikh, Y, Walsh, R, Waterham, HR, Ferdinandusse, S, Wanders, RJA, Taylor, RW, Pitt, JJ, Mayne, PD

Relation: Fitzsimons, P. E., Alston, C. L., Bonnen, P. E., Hughes, J., Crushell, E., Geraghty, M. T., Tetreault, M., O'Reilly, P., Twomey, E., Sheikh, Y., Walsh, R., Waterham, H. R., Ferdinandusse, S., Wanders, R. J. A., Taylor, R. W., Pitt, J. J. & Mayne, P. D. (2018). Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency. Am J Med Genet A, 176 (5), pp.1115-1127. https://doi.org/10.1002/ajmg.a.38658.; http://hdl.handle.net/11343/253579

الاتاحة: http://hdl.handle.net/11343/253579

المؤلفون: Lenz, D., Schlieben, L.D., Shimura, M., Bianzano, A., Garbade, S., Smirnov, D., Kopajtich, R., Adam, R., Aldrian, D., Barić, Ivo, Baumann, Ulrich, Bozbulut, N.E., Bufler, Philip, Burnyte, B., Calvo, Pier Luigi, Crushell, E., Dalgic, Buket, Das, A., Dezsofi, Antal, Dick, A., Houwen, RHJ

المساهمون: MDL patientenzorg

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/448252

الاتاحة: https://dspace.library.uu.nl/handle/1874/448252

المؤلفون: Forman, E. B., Lynch, S. A., Knerr, I., Monavari, A., Hughes, J., Boruah, R., Green, A., Crushell, E.

المصدر: European Journal of Pediatrics ; volume 182, issue 1, page 31-40 ; ISSN 1432-1076

الاتاحة: http://dx.doi.org/10.1007/s00431-022-04697-0
https://link.springer.com/content/pdf/10.1007/s00431-022-04697-0.pdf
https://link.springer.com/article/10.1007/s00431-022-04697-0/fulltext.html

المؤلفون: MDL patientenzorg, Lenz, D., Schlieben, L.D., Shimura, M., Bianzano, A., Garbade, S., Smirnov, D., Kopajtich, R., Adam, R., Aldrian, D., Barić, Ivo, Baumann, Ulrich, Bozbulut, N.E., Bufler, Philip, Burnyte, B., Calvo, Pier Luigi, Crushell, E., Dalgic, Buket, Das, A., Dezsofi, Antal, Dick, A., Houwen, RHJ

URL: https://doi.org/10.1097/MPG.0000000000003446
http://hdl.handle.net/1874/448252
http://www.scopus.com/inward/record.url?scp=85131225121&partnerID=8YFLogxK
0277-2116
Journal of Pediatric Gastroenterology and Nutrition
74
S2
676
677

المؤلفون: Bolton SC, Soran V, Pineda M, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T

المصدر: ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::7eb1a8298491fb6144f97be8eae08d41
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20833

المؤلفون: Alston, CL, Howard, C, Olahova, M, Hardy, SA, He, L, Murray, PG, O'Sullivan, S, Doherty, G, Shield, JPH, Hargreaves, IP, Monavari, AA, Knerr, I, McCarthy, P, Morris, AAM, Thorburn, DR, Prokisch, H, Clayton, PE, McFarland, R, Hughes, J, Crushell, E, Taylor, RW

Relation: pii: jmedgenet-2015-103576; Alston, C. L., Howard, C., Olahova, M., Hardy, S. A., He, L., Murray, P. G., O'Sullivan, S., Doherty, G., Shield, J. P. H., Hargreaves, I. P., Monavari, A. A., Knerr, I., McCarthy, P., Morris, A. A. M., Thorburn, D. R., Prokisch, H., Clayton, P. E., McFarland, R., Hughes, J. ,. Taylor, R. W. (2016). A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. JOURNAL OF MEDICAL GENETICS, 53 (9), pp.634-641. https://doi.org/10.1136/jmedgenet-2015-103576.; http://hdl.handle.net/11343/259277

الاتاحة: http://hdl.handle.net/11343/259277

المؤلفون: Forman, E. B., Lynch, S. A., Knerr, I., Monavari, A., Hughes, J., Boruah, R., Green, A., Crushell, E.

المصدر: European Journal of Pediatrics; Jan2023, Vol. 182 Issue 1, p31-40, 10p, 4 Charts

مصطلحات موضوعية: IRISH Travellers (Nomadic people), METABOLISM, CONSANGUINITY, METABOLIC disorders

مصطلحات جغرافية: IRELAND