LEADER 00997nam0 22002651i 450 001 UON00074522 005 20231205102404.432 100 $a20020107d1963 |0itac50 ba 101 $aeng 102 $aIE 105 $a|||| ||||| 200 1 $aˆA ‰glossary of Ethiopian plant names$fby H. F. Mooney 210 $a[Irlanda]$cDublin University Press$d1963 215 $avii, 79 p.$d25 cm 606 $aPIANTE$xEtiopia$xGlossari$3UONC022660$2FI 620 $ds.l.$3UONL001369 676 $a581.03$cGLOSSARI DI BOTANICA$v21 700 1$aMOONEY$bH. 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Michael Gibson, Garry Brown, Eva Morava, Verena Peters 205 $a1st ed. 2014. 210 1$aBerlin, Heidelberg :$cSpringer Berlin Heidelberg :$cImprint: Springer,$d2014. 215 $a1 online resource (95 p.) 225 1 $aJIMD Reports,$x2192-8304 ;$vv. 17 300 $aDescription based upon print version of record. 311 08$a3-662-44577-8 320 $aIncludes bibliographical references. 327 $tReversible Keratopathy Due to Hypertyrosinaemia Following Intermittent Low-Dose Nitisinone in Alkaptonuria: A Case Report /$rR. M. K. Stewart, M. C. Briggs, J. C. Jarvis, J. A. Gallagher, L. Ranganath --$tSports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment /$rD. Karall, G. Mair, U. Albrecht, K. Niedermayr, T. Karall, W. Schobersberger et al. --$tA Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus /$rAlessandra Zanetti, Rosella Tomanin, Angelica Rampazzo, Chiara Rigon, Nicoletta Gasparotto, Matteo Cassina et al. --$tWidening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis /$rGuy Helman, Maria Belen Pappa, Phillip L. Pearl --$tAntiepileptic Medications Increase Osteoporosis Risk in Male Fabry Patients: Bone Mineral Density in an Australian Cohort /$rAndrew Talbot, Joanna R. Ghali, Kathy Nicholls --$tThe Complexity of Newborn Screening Follow-Up in Phenylketonuria /$rLeah E. Hecht, Ann E. Wessel, Harvey L. Levy, Gerard T. Berry --$tRevised Proposal for the Prevention of Low Bone Mass in Patients with Classic Galactosemia /$rBritt van Erven, Myrna M. M. Römers, M. Estela Rubio-Gozalbo --$tAssociated Leigh Syndrome with Hypocitrullinemia on Newborn Screening /$rMari Mori, John R. Mytinger, Lisa C. Martin, Dennis Bartholomew, Scott Hickey --$tUrge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey /$rNesrin Karabul, Anika Skudlarek, Janine Berndt, Cornelia Kornblum, Rudolf A. Kley, Stephan Wenninger et al. --$tA Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV /$rHayriye Hizarcioglu-Gulsen, Aysel Yuce, Zuhal Akcoren, Burcu Berberoglu-Ates, Yusuf Aydemir, Erdal Sag et al. --$tCirrhosis Associated with Pyridoxal 5?-Phosphate Treatment of Pyridoxamine 5?-Phosphate Oxidase Deficiency /$rAnnapurna Sudarsanam, Harry Singh, Bridget Wilcken, Michael Stormon, Susan Arbuckle, Bernhard Schmitt et al. --$tHypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype /$rDong-Hwan Lee, Wen-Juan Qiu, Jeongho Lee, Yin-Hsiu Chien, Wuh-Liang Hwu --$tClinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism /$rCelia Atkinson, Isabelle R. Miousse, David Watkins, David S. Rosenblatt, Julian A. J. Raiman --$tUncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up /$rL. van der Tol, David Cassiman, Gunnar Houge, Mirian C. Janssen, Robin H Lachmann, Gabor E Linthorst et al. --$tImprovement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III /$rAlessandra Brambilla, Savina Mannarino, Roberta Pretese, Serena Gasperini, Cinzia Galimberti, Rossella Parini --$tErratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis /$rGuy Helman, Maria Belen Pappa, Phillip L. Pearl. 330 $aJIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. 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