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8 results for Mercimek-Mahmutoglu,+Saadet

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ArticlesPeer ReviewedFull Text
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
Author / Creator:Stadler, Sonja C. ; Polanetz, Roman ; Maier, Esther M. ; Heidenreich, Sylvia C. ; Niederer, Birgit ; Mayerhofer, Peter U. ; Lagler, Florian ; Koch, Hans-Georg ; Santer, René ; Fletcher, Janice M. ; Ranieri, Enzo ; Das, Anibh M. ; Spiekerkötter, Ute ; Schwab, Karl O. ; Pötzsch, Simone ; Marquardt, Iris ; Hennermann, Julia B. ; Knerr, Ina ; Mercimek-Mahmutoglu, Saadet ; Kohlschmidt, Nicolai ; Liebl, Bernhard ; Fingerhut, Ralph ; Olgemöller, Bernhard ; Muntau, Ania C. ; Roscher, Adelbert A. ; Röschinger, Wulf
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2006-08, Vol.27 (8), p.748-759
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Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria
Author / Creator:Engel, Katharina ; Vuissoz, Jean-Marc ; Eggimann, Sandra ; Groux, Murielle ; Berning, Christoph ; Hu, Liyan ; Klaus, Vera ; Moeslinger, Dorothea ; Mercimek-Mahmutoglu, Saadet ; Stöckler, Sylvia ; Wermuth, Bendicht ; Häberle, Johannes ; Nuoffer, Jean-Marc
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-01, Vol.35 (1), p.133-140
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Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Author / Creator:Stavropoulos, Dimitri J ; Merico, Daniele ; Jobling, Rebekah ; Bowdin, Sarah ; Monfared, Nasim ; Thiruvahindrapuram, Bhooma ; Nalpathamkalam, Thomas ; Pellecchia, Giovanna ; Yuen, Ryan K C ; Szego, Michael J ; Hayeems, Robin Z ; Shaul, Randi Zlotnik ; Brudno, Michael ; Girdea, Marta ; Frey, Brendan ; Alipanahi, Babak ; Ahmed, Sohnee ; Babul-Hirji, Riyana ; Porras, Ramses Badilla ; Carter, Melissa T ; Chad, Lauren ; Chaudhry, Ayeshah ; Chitayat, David ; Doust, Soghra Jougheh ; Cytrynbaum, Cheryl ; Dupuis, Lucie ; Ejaz, Resham ; Fishman, Leona ; Guerin, Andrea ; Hashemi, Bita ; Helal, Mayada ; Hewson, Stacy ; Inbar-Feigenberg, Michal ; Kannu, Peter ; Karp, Natalya ; Kim, Raymond H ; Kronick, Jonathan ; Liston, Eriskay ; MacDonald, Heather ; Mercimek-Mahmutoglu, Saadet ; Mendoza-Londono, Roberto ; Nasr, Enas ; Nimmo, Graeme ; Parkinson, Nicole ; Quercia, Nada ; Raiman, Julian ; Roifman, Maian ; Schulze, Andreas ; Shugar, Andrea ; Shuman, Cheryl ; Sinajon, Pierre ; Siriwardena, Komudi ; Weksberg, Rosanna ; Yoon, Grace ; Carew, Chris ; Erickson, Raith ; Leach, Richard A ; Klein, Robert ; Ray, Peter N ; Meyn, M Stephen ; Scherer, Stephen W ; Cohn, Ronald D ; Marshall, Christian R
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2016-01, Vol.1 (1), p.15012-15012, Article 15012
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Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy
Author / Creator:Al Teneiji, Amal ; Bruun, Theodora U. J. ; Cordeiro, Dawn ; Patel, Jaina ; Inbar-Feigenberg, Michal ; Weiss, Shelly ; Struys, Eduard ; Mercimek-Mahmutoglu, Saadet
Publisher:New York: Springer US
Journal title:Metabolic brain disease, 2017-04, Vol.32 (2), p.443-451
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Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene
Author / Creator:Desroches, Caro-Lyne ; Patel, Jaina ; Wang, Peixiang ; Minassian, Berge ; Marshall, Christian R. ; Salomons, Gajja S. ; Mercimek-Mahmutoglu, Saadet
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Molecular genetics and genomics : MGG, 2015-12, Vol.290 (6), p.2163-2171
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Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study
Author / Creator:Mercimek-Mahmutoglu, Saadet ; Sidky, Sarah ; Hyland, Keith ; Patel, Jaina ; Donner, Elizabeth J ; Logan, William ; Mendoza-Londono, Roberto ; Moharir, Mahendranath ; Raiman, Julian ; Schulze, Andreas ; Siriwardena, Komudi ; Yoon, Grace ; Kyriakopoulou, Lianna
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-02, Vol.10 (1), p.12-12
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Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene
Author / Creator:Tran, Christel ; Konstantopoulou, Vassiliky ; Mecjia, Michelle ; Perlman, Kusiel ; Mercimek-Mahmutoglu, Saadet ; Kronick, Jonathan B.
Publisher:Germany: De Gruyter
Journal title:Journal of Pediatric Endocrinology & Metabolism, 2015-07, Vol.28 (7), p.873-876
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ArticlesPeer ReviewedFull Text
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity ofMCCA andMCCB mutations and impact on risk assessment
Author / Creator:Stadler, Sonja C. ; Polanetz, Roman ; Maier, Esther M. ; Heidenreich, Sylvia C. ; Niederer, Birgit ; Mayerhofer, Peter U. ; Lagler, Florian ; Koch, Hans-Georg ; Santer, René ; Fletcher, Janice M. ; Ranieri, Enzo ; Das, Anibh M. ; Spiekerkötter, Ute ; Schwab, Karl O. ; Pötzsch, Simone ; Marquardt, Iris ; Hennermann, Julia B. ; Knerr, Ina ; Mercimek-Mahmutoglu, Saadet ; Kohlschmidt, Nicolai ; Liebl, Bernhard ; Fingerhut, Ralph ; Olgemöller, Bernhard ; Muntau, Ania C. ; Roscher, Adelbert A. ; Röschinger, Wulf
Journal title:Human mutation, 2006-08, Vol.27 (8), p.748-759
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

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Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment

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Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria

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Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

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Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy

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Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene

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Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study

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Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene

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Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity ofMCCA andMCCB mutations and impact on risk assessment

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