Search Results - "Mercimek, S"

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    Valorization of spent coffee grounds recycling as a potential alternative fuel resource in Turkey: An experimental study by Atabani, A E, Mercimek, S M, Arvindnarayan, Sundaram, Shobana, Sutha, Kumar, Gopalakrishnan, Cadir, Mehmet, Al-Muhatseb, Ala'a H

    “…In this study, recycling of spent coffee grounds (SCG) as a potential feedstock for alternative fuel production and compounds of added value in Turkey was…”
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    Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses by Biswas, A, Krishnan, P, Amirabadi, A, Blaser, S, Mercimek-Andrews, S, Shroff, M

    Published in American journal of neuroradiology : AJNR (01-10-2020)
    “…Neuronal ceroid lipofuscinoses are a group of neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigments in neuronal cells…”
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    Neonatal encephalopathy: Etiologies other than hypoxic-ischemic encephalopathy by Sandoval Karamian, A.G., Mercimek-Andrews, S., Mohammad, K., Molloy, E.J., Chang, T., Chau, Vann, Murray, D.M., Wusthoff, Courtney J.

    Published in Seminars in fetal & neonatal medicine (01-10-2021)
    “…Neonatal encephalopathy (NE) describes the clinical syndrome of a newborn with abnormal brain function that may result from a variety of etiologies. HIE should…”
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    Characterization of seven novel mutations in seven patients with GAMT deficiency by Item, C.B., Mercimek-Mahmutoglu, S., Battini, R., Edlinger-Horvat, C., Stromberger, C., Bodamer, O., Mühl, A., Vilaseca, M.A., Korall, H., Stöckler-Ipsiroglu, S.

    Published in Human mutation (01-05-2004)
    “…Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive error of creatine synthesis characterized by cerebral creatine deficiency,…”
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    A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene by Mercimek-Mahmutoglu, S., Pop, A., Kanhai, W., Fernandez Ojeda, M., Holwerda, U., Smith, D., Loeber, J.G., Schielen, P.C.J.I., Salomons, G.S.

    Published in Gene (01-01-2016)
    “…GAMT deficiency is an autosomal recessive disorder of creatine biosynthesis causing developmental delays or intellectual disability in untreated patients as a…”
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    Genotype-phenotype correlation in vanishing white matter disease by VAN DER LEI, H. D. W, VAN BERKEL, C. G. M, VAN DER KNAAP, M. S, VAN WIERINGEN, W. N, BRENNER, C, FEIGENBAUM, A, MERCIMEK-MAHMUTOGLU, S, PHILIPPART, M, TATLI, B, WASSMER, E, SCHEPER, G. C

    Published in Neurology (26-10-2010)
    “…Vanishing white matter (VWM) is an autosomal recessive leukoencephalopathy characterized by slowly progressive ataxia and spasticity with additional…”
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    Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria by Mercimek-Mahmutoglu, S., Moeslinger, D., Häberle, J., Engel, K., Herle, M., Strobl, M.W., Scheibenreiter, S., Muehl, A., Stöckler-Ipsiroglu, S.

    Published in Molecular genetics and metabolism (01-05-2010)
    “…Twenty-three patients with late onset argininosuccinate lyase deficiency (ASLD) were identified during a 27-year period of newborn screening in Austria…”
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    Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease by Mercimek-Mahmutoglu, S., Sinclair, G., van Dooren, S.J.M., Kanhai, W., Ashcraft, P., Michel, O.J., Nelson, J., Betsalel, O.T., Sweetman, L., Jakobs, C., Salomons, G.S.

    Published in Molecular genetics and metabolism (01-11-2012)
    “…GAMT deficiency is an autosomal recessive disorder of creatine biosynthesis resulting in severe neurological complications in untreated patients. Currently…”
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    Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case by Mercimek-Mahmutoglu, S, van der Knaap, M S, Baric, I, Prayer, D, Stoeckler-Ipsiroglu, S

    Published in Neuropediatrics (01-06-2005)
    “…Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome is a new neurodegenerative entity, which was first described by van der Knaap…”
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    Natural History of Vanishing White Matter by Hamilton, Eline M. C., van der Lei, Hannemieke D. W., Lourenço, Charles M., Naidu, Sakkubai, Mierzewska, Hanna, de Vet, Henrica C. W., Uitdehaag, Bernard M. J., Lissenberg‐Witte, Birgit I., Aldhalaan, H., Alves, D., Appleton, R., Arslan, E.A., Baethmann, M., Banwell, B., Barbot, C., Bertini, E., Bley, A., Bollen, L., Boltshauser, E., Bower, S., Bravo Oro, A., Campos, M.M., Carr, L., Chan, A.K.J., Clarke, A., Crow, Y., Csányi, B., Del Rossario Aldao, M., D'Hooghe, M., El Helou, J, Fallon, P., Ferlini, A., Ferro, J.M., Fluss, J., Fontenelle, L., Garone, C., Geldhoff, M., Glamuzina, E., Góes, F., Gonzalez, V., Guarda, C., Gulati, S., Güler, S., Horvath, R., Jagadeesh, S., Kaczorowska, M., Kankirawatana, P., Karall, D., King, M.D., Krägeloh‐Mann, I., Lehman, A., Liptai, Z., Livingston, J.H., Maes, M., Majumdar, A., Mandel, H., McEntagart, M., Morton, R., Moura de Souza, C.F., Mundy, H., Naess, K., Naismith, K., Newton, R.W., Noetzel, M.J., O'Brien, B, Okálová, K., Østergaard, J.R., Pato Pato, A., Pera, J., Perlman, S., Philippart, M., Régal, L., Rice, C.M., Rossignol, E., Rubin, J.P., Salvi, F., Sampaio, H., Sánchez Herrero, J., Santos, E., Sessa, M., Sharma, S., Shearn, J., Shoffner, J., Skranes, J.S., Sparagana, S.P., Storey, E., Sztriha, L., Tatli, B., Tekturk, P., Tennison, M., Tirupathi, S., Toledo Bravo de Laguna, L., Tuna, M.A., Valverde, A., van Coster, R., Vasconcelos, M., Vogt, H., von Kleist‐Retzow, J.C., Wong, S.S.N., Yavuz, H.

    Published in Annals of neurology (01-08-2018)
    “…Objective To comprehensively describe the natural history of vanishing white matter (VWM), aiming at improving counseling of patients/families and providing…”
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    The effect of some sugar supplemented diet with various sucrose ratios on the life cycle and egg productivity of the adult females of Pimpla turionellae L. (Hymenoptera: ichneumonidae) by COSKUN, Mustafa, MERCIMEK, Senem, OZALP, Pinar

    “…This study aimed to investigate the effect of nutrition which consisted of 7% of ribose, rhamnose, arabinose, and xylose supplemented with 0, 7, and 14% of…”
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    Chemical survey of Class I protostars with the IRAM-30m by Mercimek, S, Codella, C, Podio, L, Bianchi, E, Chahine, L, Bouvier, M, Lopez-Sepulcre, A, Neri, R, Ceccarelli, C

    Published 15-11-2021
    “…A&A 659, A67 (2022) Class I protostars are a bridge between Class 0 protostars, and Class II protoplanetary disks. Recent studies show gaps and rings in the…”
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    FAUST XII. Accretion streamers and jets in the VLA 1623--2417 protocluster by Codella, C, Podio, L, De Simone, M, Ceccarelli, C, Ohashi, S, Chandler, C. J, Sakai, N, Pineda, J. E, Segura-Cox, D. M, Bianchi, E, Cuello, N, López-Sepulcre, A, Fedele, D, Caselli, P, Charnley, S, Johnstone, D, Zhang, Z. E, Maureira, M. J, Zhang, Y, Sabatini, G, Svoboda, B, Jiménez-Serra, I, Loinard, L, Mercimek, S, Murillo, N, Yamamoto, S

    Published 15-02-2024
    “…The ALMA interferometer has played a key role in revealing a new component of the Sun-like star forming process: the molecular streamers, i.e. structures up to…”
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