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JIMD reports-- case and research reports. 2012/5

Author: Garry Brown; Eva Morava; Verena Peters
Publisher: Heidelberg ; New York : Springer, ©2013.
Series: JIMD reports, v. 8.
Edition/Format:   eBook : Document : EnglishView all editions and formats
Summary:
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
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Genre/Form: Electronic books
Additional Physical Format: Print version:
Jimd reports - case and research reports, 2012/5.
[S.l.] : Springer, 2012
(OCoLC)807033575
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Garry Brown; Eva Morava; Verena Peters
ISBN: 9783642334337 3642334334 3642334326 9783642334320
OCLC Number: 813213127
Description: 1 online resource.
Contents: The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity / Cosima Rhein, Julia Naumann, Christiane Mühle, Peter Zill and Mazda Adli, et al. --
The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE / Waseem Fathalla and Elamin Ahmed --
A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine / Pankaj Garg, Kevin Carpenter, Shanley Chong and John Christodoulou --
ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients / M. Dercksen, A.C. Crutchley, E.M. Honey, M.M. Lippert and G. Matthijs, et al. --
Unexplained Hypoglycemia During Continuous Nocturnal Gastric Drip-Feeding in a Patient with Glycogen Storage Disease Type Ia: Is It a Dumping-Like Syndrome? / A. Brambilla, A. Pozzoli, F. Furlan and R. Parini. A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders / Stefanie Kung, Mark Walters, Peter Claes, Jack Goldblatt and Peter Le Souef, et al. --
Orthotopic Liver Transplantation in an Adult with Cholesterol Ester Storage Disease / Graeme K Ambler, Matthew Hoare, Rebecca Brais, Ashley Shaw and Andrew Butler, et al. --
Inheritance of the m.3243A>G mutation / Paul de Laat, Saskia Koene, Lambert P.W.J. vd Heuvel, Richard J.T. Rodenburg and Mirian C.H. Janssen, et al. --
Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage / Gabor E. Linthorst, Alessandro P. Burlina, Franco Cecchi, Timothy M. Cox and Janice M. Fletcher, et al. --
cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period / Daniel Palanca, Angels Garcia-Cazorla, Jessica Ortiz, Cristina Jou and Victoria Cusí, et al. Mannose 6-Phosphate Conjugation Is Not Sufficient to Allow Induction of Immune Tolerance to Phenylalanine Ammonia-Lyase in Dogs / Moin Vera, Thomas Lester, Bin Zhao, Pascale Tiger and Scott Clarke, et al. --
Association of Dopamine Receptor Gene Polymorphisms with the Clinical Course of Wilson Disease / T. Litwin, G. Gromadzka, J. Samochowiec, A. Grzywacz and A. Członkowski, et al. --
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency / C. Bieneck Haglind, M. Halldin Stenlid, S. Ask, J. Alm and A. Nemeth, et al. --
Fabry Disease in Latin America: Data from the Fabry Registry / J. Villalobos, J.M. Politei, A.M. Martins, G. Cabrera and H. Amartino, et al. --
Questioning the Pathogenic Role of the GLA p. Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT / W. Terryn, R. Vanholder, D. Hemelsoet, B.P. Leroy and W. Van Biesen, et al. A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria / Mary Lou Lindegren, Shanthi Krishnaswami, Tyler Reimschisel, Christopher Fonnesbeck and Nila A. Sathe, et al. --
Neonatal Bone Marrow Transplantation in MPS IIIA Mice / Adeline A Lau, N. Jannah Shamsani, Leanne K. Winner, Sofia Hassiotis and Barbara M. King, et al. --
Therapeutic Efficacy of Magnesium Valproate in Succinic Semialdehyde Dehydrogenase Deficiency / Elena Vanadia, K. Michael Gibson, Phillip L. Pearl, Emanuele Trapolino and Salvatore Mangano, et al. --
Barriers to Transplantation in Adults with Inborn Errors of Metabolism / S.M. Sirrs, H. Faghfoury, E.M. Yoshida and T. Geberhiwot --
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165 / R. Zeevaert, F. de Zegher, L. Sturiale, D. Garozzo and M. Smet, et al.
Series Title: JIMD reports, v. 8.
Responsibility: Garry Brown, Eva Morava, editors ; Verena Peters, managing editor.

Abstract:

This unique collection of case and research reports on rare metabolic disorders contains unusual or previously unrecorded features.  Read more...

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