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19 results for Growth+Disorders+-+enzymology

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Aminoacyl-tRNA synthetase deficiencies in search of common themes
Author / Creator:Fuchs, Sabine A. ; Schene, Imre F. ; Kok, Gautam ; Jansen, Jurriaan M. ; Nikkels, Peter G. J. ; van Gassen, Koen L. I. ; Terheggen-Lagro, Suzanne W. J. ; van der Crabben, Saskia N. ; Hoeks, Sanne E. ; Niers, Laetitia E. M. ; Wolf, Nicole I. ; de Vries, Maaike C. ; Koolen, David A. ; Houwen, Roderick H. J. ; Mulder, Margot F. ; van Hasselt, Peter M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-02, Vol.21 (2), p.319-330
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Growth retardation and altered autonomic control in mice lacking brain serotonin
Author / Creator:Alenina, Natalia ; Kikic, Dana ; Todiras, Mihail ; Mosienko, Valentina ; Qadri, Fatimunnisa ; Plehm, Ralph ; Boyé, Philipp ; Vilianovitch, Larissa ; Sohr, Reinhard ; Tenner, Katja ; Hörtnagl, Heide ; Bader, Michael
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2009-06, Vol.106 (25), p.10332-10337
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An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene
Author / Creator:Miura, Kohji ; Namba, Noriyuki ; Fujiwara, Makoto ; Ohata, Yasuhisa ; Ishida, Hidekazu ; Kitaoka, Taichi ; Kubota, Takuo ; Hirai, Haruhiko ; Higuchi, Chikahisa ; Tsumaki, Noriyuki ; Yoshikawa, Hideki ; Sakai, Norio ; Michigami, Toshimi ; Ozono, Keiichi
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-08, Vol.7 (8), p.e42180
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ITPase-deficient mice show growth retardation and die before weaning
Author / Creator:Behmanesh, M ; Sakumi, K ; Abolhassani, N ; Toyokuni, S ; Oka, S ; Ohnishi, Y N ; Tsuchimoto, D ; Nakabeppu, Y
Publisher:London: Nature Publishing Group UK
Journal title:Cell death and differentiation, 2009-10, Vol.16 (10), p.1315-1322
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RhoE deficiency produces postnatal lethality, profound motor deficits and neurodevelopmental delay in mice
Author / Creator:Mocholí, Enric ; Ballester-Lurbe, Begoña ; Arqué, Gloria ; Poch, Enric ; Peris, Blanca ; Guerri, Consuelo ; Dierssen, Mara ; Guasch, Rosa M ; Terrado, José ; Pérez-Roger, Ignacio
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-04, Vol.6 (4), p.e19236
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Deficiency of a Protein-Repair Enzyme Results in the Accumulation of Altered Proteins, Retardation of Growth, and Fatal Seizures in Mice
Author / Creator:Kim, Edward ; Lowenson, Jonathan D. ; MacLaren, Duncan C. ; Clarke, Steven ; Young, Stephen G.
Publisher:United States: National Academy of Sciences of the United States of America
Journal title:Proceedings of the National Academy of Sciences - PNAS, 1997-06, Vol.94 (12), p.6132-6137
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Growth Retardation and Cysteine Deficiency in γ -Glutamyl Transpeptidase-Deficient Mice
Author / Creator:Lieberman, Michael W. ; Wiseman, Amy L. ; Shi, Zheng-Zheng ; Carter, Bing Z. ; Barrios, Roberto ; Ou, Ching-Nan ; Chévez-Barrios, Patricia ; Wang, Yan ; Habib, Geetha M. ; Goodman, J. Clay ; Huang, Shiu L. ; Lebovitz, Russell M. ; Matzuk, Martin M.
Publisher:United States: National Academy of Sciences of the United States of America
Journal title:Proceedings of the National Academy of Sciences - PNAS, 1996-07, Vol.93 (15), p.7923-7926
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Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Can Achieve Their Target Height: The Leipzig Experience
Author / Creator:Hoepffner, Wolfgang ; Kaufhold, Antje ; Willgerodt, Helmut ; Keller, Eberhard
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Hormone research in paediatrics, 2008-01, Vol.70 (1), p.42-50
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Mevalonate Kinase Deficiency: Enlarging the Clinical and Biochemical Spectrum
Author / Creator:Prietsch, Viola ; Mayatepek, Ertan ; Krastel, Hermann ; Haas, Dorothea ; Zundel, Dorothee ; Waterham, Hans R ; Wanders, Ronald J.A ; Gibson, K. Michael ; Hoffmann, Georg F
Publisher:Elk Grove Village, IL: Am Acad Pediatrics
Journal title:Pediatrics (Evanston), 2003-02, Vol.111 (2), p.258-261
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d-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect
Author / Creator:Jurecka, A. ; Tylki-Szymanska, A. ; Zikanova, M. ; Krijt, J. ; Kmoch, S.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.329-332
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Growth Patterns and Final Height in Congenital Adrenal Hyperplasia due to Classical 21-Hydroxylase Deficiency: Results of a Multicenter Study
Author / Creator:Hargitai, Gábor ; Sólyom, János ; Battelino, Tadej ; Lebl, Jan ; Pribilincová, Zuzanna ; Hauspie, Roland ; Kovács, József ; Waldhauser, Franz ; Frisch, Herwig
Publisher:Basel: S. Karger AG
Journal title:Hormone research in paediatrics, 2001-01, Vol.55 (4), p.161
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Elevated Cu/Zn-SOD exacerbates radiation sensitivity and hematopoietic abnormalities of Atm-deficient mice
Author / Creator:Peter, Yakov ; Rotman, Galit ; Lotem, Joseph ; Elson, Ari ; Shiloh, Yosef ; Groner, Yoram
Publisher:Chichester, UK: John Wiley & Sons, Ltd
Journal title:The EMBO journal, 2001-04, Vol.20 (7), p.1538-1546
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Postreceptor Crosstalk on PI3K/Akt between GH and Insulin in Non-Catch-Up Growth Rats Born Small for Gestational Age
Author / Creator:Huang, Ting-Ting ; Du, Minlian ; Kuluz, John W. ; Li, Yanhong ; Ma, Huamei
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Hormone research in paediatrics, 2008-01, Vol.70 (1), p.29-35
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Lowered Concentrations of Branched-Chain Amino Acids Result in Impaired Growth and Neurological Problems: Insights from a Branched-Chain α-Keto Acid Dehydrogenase Complex Kinase-Deficient Mouse Model
Author / Creator:Watford, M
Publisher:Oxford, UK: Blackwell Publishing Ltd
Journal title:Nutrition reviews, 2007-04, Vol.65 (4), p.167-172
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Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism?
Author / Creator:Barker, Karen T ; Houlston, Richard S
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2003-09, Vol.11 (9), p.665-670
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Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency
Author / Creator:COHEN, L. H. F ; VAMOS, E ; HEINRICHS, C ; TOPPET, M ; COURTENS, W ; KUMPS, A ; MARDENS, Y ; CARLSSON, B ; GRILLNER, L ; LARSSON, A
Publisher:Heidelberg: Springer
Journal title:European journal of pediatrics, 1997-12, Vol.156 (12), p.935-938
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Stunting syndrome in turkeys. Development of an experimental model
Author / Creator:Angel, C.R. (Iowa State University, Ames, IA) ; Sell, J.L ; Trampel, D.W
Publisher:United States: American Association of Avian Pathologists, Inc
Journal title:Avian diseases, 1990-04, Vol.34 (2), p.447-453
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Sotos' syndrome of cerebral gigantism
Author / Creator:Abraham, J. M. ; Snodgrass, G. J.
Publisher:England: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 1969-04, Vol.44 (234), p.203-210
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Heterogenous Glycogen Storage Disease in One Family
Author / Creator:Domaniç, Nergiz ; Akman, Nuran ; Özand, Pinar ; Müftüoglu, Asuman Ü.
Publisher:Basel, Switzerland
Journal title:Human heredity, 1976, Vol.26 (3), p.217-225
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Aminoacyl-tRNA synthetase deficiencies in search of common themes

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Growth retardation and altered autonomic control in mice lacking brain serotonin

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An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene

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ITPase-deficient mice show growth retardation and die before weaning

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RhoE deficiency produces postnatal lethality, profound motor deficits and neurodevelopmental delay in mice

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Deficiency of a Protein-Repair Enzyme Results in the Accumulation of Altered Proteins, Retardation of Growth, and Fatal Seizures in Mice

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Growth Retardation and Cysteine Deficiency in γ -Glutamyl Transpeptidase-Deficient Mice

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Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Can Achieve Their Target Height: The Leipzig Experience

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Mevalonate Kinase Deficiency: Enlarging the Clinical and Biochemical Spectrum

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d-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect

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Growth Patterns and Final Height in Congenital Adrenal Hyperplasia due to Classical 21-Hydroxylase Deficiency: Results of a Multicenter Study

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Elevated Cu/Zn-SOD exacerbates radiation sensitivity and hematopoietic abnormalities of Atm-deficient mice

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Postreceptor Crosstalk on PI3K/Akt between GH and Insulin in Non-Catch-Up Growth Rats Born Small for Gestational Age

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Lowered Concentrations of Branched-Chain Amino Acids Result in Impaired Growth and Neurological Problems: Insights from a Branched-Chain α-Keto Acid Dehydrogenase Complex Kinase-Deficient Mouse Model

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Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism?

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Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency

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Stunting syndrome in turkeys. Development of an experimental model

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Sotos' syndrome of cerebral gigantism

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Heterogenous Glycogen Storage Disease in One Family

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