يعرض 1 - 10 نتائج من 201 نتيجة بحث عن '"Ferdinandusse, S."', وقت الاستعلام: 1.55s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

    المؤلفون: Falkenberg, KD, Braverman, NE, Moser, AB, Steinberg, SJ, Klouwer, FCC, Schluter, A, Ruiz, M, Pujol, A, Engvall, M, Naess, K, van Spronsen, F, Korver-Keularts, I, Rubio-Gozalbo, ME, Ferdinandusse, S, Wanders, RJA, Waterham, HR

    المصدر: American journal of human genetics. 101(6):965-976

    مصطلحات موضوعية: Medicin och hälsovetenskap

    الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:137203153Test

    View record in SwePub النص الكامل

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  2. 2
    دورية أكاديمية
    Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene

    المؤلفون: Waterham, H. R., Koster, J., Ebberink, M. S., Ješina, P., Zeman, J., Nosková, L., Kmoch, S., Devic, P., Cheillan, D., Wanders, R. J. A., Ferdinandusse, S.

    المساهمون: Amsterdam UMC - Amsterdam University Medical Center, Medicine Charles University and General Faculty Hospital in Prague, Hôpital neurologique et neurochirurgical Pierre Wertheimer CHU - HCL, Hospices Civils de Lyon (HCL), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Service de Biochimie et Biologie Moléculaire Grand Est HCL, Lyon (Centre de Biologie et de Pathologie)

    المصدر: ISSN: 1098-3600.

    مصطلحات موضوعية: Autophagy, Metabolic disorder, Peroxisomal disorder, Peroxisome, Peroxisome biogenesis, [SDV]Life Sciences [q-bio]

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37493040; inserm-04431834; https://inserm.hal.science/inserm-04431834Test; https://inserm.hal.science/inserm-04431834/documentTest; https://inserm.hal.science/inserm-04431834/file/1-s2.0-S1098360023009577-main.pdfTest; PUBMED: 37493040

    الإتاحة: https://doi.org/10.1016/j.gim.2023.100944Test
    https://inserm.hal.science/inserm-04431834Test
    https://inserm.hal.science/inserm-04431834/documentTest
    https://inserm.hal.science/inserm-04431834/file/1-s2.0-S1098360023009577-main.pdfTest

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  3. 3
    دورية أكاديمية
    Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis

    المؤلفون: Alabdulrazzaq, F, Alanzi, T, Al‐Balool, HH, Gardham, A, Wakeling, E, Leitch, HG, AlSayed, M, Abdulrahim, M, Aladwani, A, Romito, A, Kampe, K, Ferdinandusse, S, Aboelanine, AH, Abdullah, A, Alwadani, A, Bastaki, L, Vaz, FM, Bertoli‐Avella, AM, Marafi, D

    المصدر: 15 ; 1

    العلاقة: Molecular Genetics and Genomic Medicine; http://hdl.handle.net/10044/1/106315Test

    الإتاحة: https://doi.org/10.1002/mgg3.2256Test
    http://hdl.handle.net/10044/1/106315Test

    View record in BASE النص الكامل

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  4. 4
    دورية أكاديمية
    Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

    المؤلفون: Tangeraas, T, Sæves, I, Klingenberg, C, Jørgensen, J, Kristensen, E, Gunnarsdottir, G, Hansen, EV, Strand, J, Lundman, E, Ferdinandusse, S, Salvador, CL, Woldseth, B, Bliksrud, YT, Sagredo, C, Olsen, ØE, Berge, MC, Trømborg, AK, Ziegler, A, Zhang, JH, Sørgjerd, LK, Ytre-Arne, M, Hogner, S, Løvoll, SM, Kløvstad Olavsen, MR, Navarrete, D, Gaup, HJ, Lilje, R, Zetterström, RH, Stray-Pedersen, A, Rootwelt, T, Rinaldo, P, Rowe, AD, Pettersen, RD

    المصدر: International journal of neonatal screening. 6(3):51

    مصطلحات موضوعية: Medicin och hälsovetenskap

    الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:233123633Test

    View record in SwePub النص الكامل

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  5. 5
    دورية أكاديمية
    Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

    المؤلفون: Lee, RG, Balasubramaniam, S, Stentenbach, M, Kralj, T, McCubbin, T, Padman, B, Smith, J, Riley, LG, Priyadarshi, A, Peng, L, Nuske, MR, Webster, R, Peacock, K, Roberts, P, Stark, Z, Lemire, G, Ito, YA, Boycott, KM, Geraghty, MT, Klinken, JB, Ferdinandusse, S, Zhou, Y, Walsh, R, Marcellin, E, Thorburn, DR, Rosciolli, T, Fletcher, J, Rackham, O, Vaz, FM, Reid, GE, Filipovska, A

    العلاقة: pii: 6526744; Lee, R. G., Balasubramaniam, S., Stentenbach, M., Kralj, T., McCubbin, T., Padman, B., Smith, J., Riley, L. G., Priyadarshi, A., Peng, L., Nuske, M. R., Webster, R., Peacock, K., Roberts, P., Stark, Z., Lemire, G., Ito, Y. A., Boycott, K. M., Geraghty, M. T. ,. Filipovska, A. (2022). Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. HUMAN MOLECULAR GENETICS, 31 (21), pp.3597-3612. https://doi.org/10.1093/hmg/ddac040Test.; http://hdl.handle.net/11343/333188Test

    الإتاحة: https://doi.org/10.1093/hmg/ddac040Test
    http://hdl.handle.net/11343/333188Test

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  6. 6
    دورية أكاديمية
    Clinical and biochemical characterization of four patients with mutations in ECHS1.

    المؤلفون: Gallagher, Renata, Ferdinandusse, S, Friederich, MW, Burlina, A, Ruiter, JPN, Coughlin, CR, Dishop, MK, Gallagher, RC, Bedoyan, JK, Vaz, FM, Waterham, HR

    الوصول الحر: https://escholarship.org/uc/item/1sv4j5jfTest

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  7. 7
    دورية أكاديمية
    Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

    المؤلفون: Hagemeijer, Marne, Oussoren, E, Ruijter, George, Onkenhout, W, Huidekoper, Hidde, Ebberink, Merel, Waterham, Hans R., Ferdinandusse, S, de Vries, Maaike C., Huigen, Marleen C.D.G., Kluijtmans, Leo A.J., Coene, Karlien L.M., Blom, Henk

    المصدر: Hagemeijer , M , Oussoren , E , Ruijter , G , Onkenhout , W , Huidekoper , H , Ebberink , M , Waterham , H R , Ferdinandusse , S , de Vries , M C , Huigen , M C D G , Kluijtmans , L A J , Coene , K L M & Blom , H 2021 , ' Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity ' , JIMD Reports , vol. 61 , no. 1 , pp. 12-18 . https://doi.org/10.1002/jmd2.12223Test

    وصف الملف: application/pdf

    الإتاحة: https://doi.org/10.1002/jmd2.12223Test
    https://pure.eur.nl/en/publications/a763a44f-d6b8-4f2b-b879-69dbdb884871Test
    https://pure.eur.nl/ws/files/54936539/JIMD_Reports_2021_Hagemeijer_Abnormal_VLCADD_newborn_screening_resembling_MADD_in_four_neonates_with_decreased.pdfTest

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  8. 8
    Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

    المؤلفون: Schwantje, M., Ebberink, M. S., Doolaard, M., Ruiter, J. P. N., Fuchs, S. A., Darin, Niklas, 1964, Oldfors Hedberg, Carola, 1969, Regal, L., Kaat, L. D., Huidekoper, H. H., Olpin, S., Cole, D., Moat, S. J., Visser, G., Ferdinandusse, S.

    المصدر: Journal of Inherited Metabolic Disease. 45(4):819-831

    مصطلحات موضوعية: Neurology, Neurologi, Pediatrics, Pediatrik, long-chain fatty acid oxidation disorders, long-chain ketoacyl-CoA, thiolase deficiency, mitochondrial trifunctional protein complex, mitochondrial trifunctional protein deficiency, myopathy, thermo-sensitivity, fatty-acid oxidation, beta-oxidation, defects, pathophysiology, dehydrogenase, disorders, mutations, enzyme, Endocrinology & Metabolism, Genetics & Heredity, Research & Experimental, Medicine

    الوصول الحر: https://gup.ub.gu.se/publication/316437Test


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  9. 9
    دورية أكاديمية
    The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes

    المؤلفون: Welsink-Karssies, M.M. (M. M.), van Weeghel, M. (M.), Hollak, C.E.M. (Carla), Elfrink, H.L. (H. L.), Janssen, M.C.H. (M. C.H.), Lai, K. (K.), Langendonk, J.G. (Janneke), Oussoren, E. (Esmée), Ruiter, J.P.N. (Jos), Treacy, E.P. (E. P.), de Vries, M. (M.), Ferdinandusse, S., Bosch, A.M. (Annet)

    المصدر: Molecular Genetics and Metabolism

    مصطلحات موضوعية: Classical Galactosemia, Fibroblasts, GALT deficiency, Inborn error of metabolism, Residual galactose metabolism

    وصف الملف: application/pdf

    العلاقة: http://repub.eur.nl/pub/123950Test; urn:hdl:1765/123950

    الإتاحة: https://doi.org/10.1016/j.ymgme.2020.01.002Test
    http://repub.eur.nl/pub/123950Test

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  10. 10
    دورية أكاديمية
    Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

    المؤلفون: Welsink-Karssies, MM, Ferdinandusse, S, Geurtsen, GJ, Hollak, CEM, Huidekoper, Hidde, Janssen, M, Langendonk, Janneke, v.d. Lee, JH, O'Flaherty, R, Oostrom, KJ, Roosendaal, Stefan, Rubio-Gozalbo, ME, Saldova, R, Treacy, EP, Vaz, FM, de Vries, MC, Engelen, MP, Bosch, A

    المصدر: Welsink-Karssies , MM , Ferdinandusse , S , Geurtsen , GJ , Hollak , CEM , Huidekoper , H , Janssen , M , Langendonk , J , v.d. Lee , JH , O'Flaherty , R , Oostrom , KJ , Roosendaal , S , Rubio-Gozalbo , ME , Saldova , R , Treacy , EP , Vaz , FM , de Vries , MC , Engelen , MP & Bosch , A 2020 , ' Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers ' , Brain Communications , vol. 2 , no. 1 , 06 . https://doi.org/10.1093/braincomms/fcaa006Test

    وصف الملف: application/pdf

    الإتاحة: https://doi.org/10.1093/braincomms/fcaa006Test
    https://pure.eur.nl/en/publications/b1755696-3676-4fe8-82f6-4e174eea5c06Test
    https://pure.eur.nl/ws/files/48382537/Repub_131392_O-A.pdfTest

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