Zschocke, Johannes
JIMD Reports - Volume 10
1. Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates
Fatma A. Al-Jasmi, Nafisa Tawfig, Ans Berniah, Bassam R. Ali, Mahmoud Taleb, Jozef L. Hertecant, Fatma Bastaki, Abdul-Kader Souid
2. Chitotriosidase Deficiency: A Mutation Update in an African Population
Silke Arndt, Angela Hobbs, Iain Sinclaire, Anthony B. Lane
3.
Adela Della Marina, Ulrike Schara, Angela Pyle, Claudia Möller-Hartmann, Elke Holinski-Feder, Angela Abicht, Birgit Czermin, Hanns Lochmüller, Helen Griffin, Mauro Santibanez-Koref, Patrick F. Chinnery, Rita Horvath
4. Accuracy of Six Anthropometric Skinfold Formulas Versus Air Displacement Plethysmography for Estimating Percent Body Fat in Female Adolescents with Phenylketonuria
Teresa D. Douglas, Mary J. Kennedy, Meghan E. Quirk, Sarah H. Yi, Rani H. Singh
5. Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease
Pranoot Tanpaiboon, Jennifer L. Sloan, Patrick F. Callahan, Dorothea McAreavey, P. Suzanne Hart, Uta Lichter-Konecki, Dina Zand, Charles P. Venditti
6. Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency
L. Boer, L. A. J. Kluijtmans, E. Morava
7. MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation
Armin Finkenstedt, Melanie Schranz, Sylvia Bösch, Daniela Karall, Sabine Scholl Bürgi, Christian Ensinger, Mathias Drach, Johannes A. Mayr, Andreas R Janecke, Wolfgang Vogel, David Nachbaur, Heinz Zoller
8. Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases
Fiona M. Lewis, David J. Coman, Maryann Syrmis, Sarah Kilcoyne, Bruce E. Murdoch
9. Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report
Curtis R. Coughlin, Keith Hyland, Rebecca Randall, Can Ficicioglu
10. Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case
Madeleine E. Sharp, Cornelia Laule, Stephen Nantel, Burkhard Mädler, Ritu B. Aul, Samuel Yip, Sandra Sirrs
11. Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population
Laura López-Marín, Luis G. Gutiérrez-Solana, Luis Aldamiz-Echevarria Azuara, Rogelio Simón las Heras, Anna Duat Rodríguez, Verónica Cantarín Extremera
12. Simple, Fast, and Simultaneous Detection of Plasma Total Homocysteine, Methylmalonic Acid, Methionine, and 2-Methylcitric Acid Using Liquid Chromatography and Mass Spectrometry (LC/MS/MS)
Xiaowei Fu, Yan-Kang Xu, Penny Chan, Paul K. Pattengale
13. An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease
James T. Bennett, Kathleen B. Schwarz, Phillip D. Swanson, Si Houn Hahn
14. Sight-Threatening Phenylketonuric Encephalopathy in a Young Adult, Reversed by Diet
S. Rubin, A. L. Le Piffer, M. B. Rougier, M. N. Delyfer, J. F. Korobelnik, I. Redonnet-Vernhet, C. Marchal, C. Goizet, S. Mesli, C. Gonzalez, H. Gin, V. Rigalleau
15. Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I
L. Schroeder, P. Orchard, C. B. Whitley, J. M. Berry, J. Tolar, W. Miller, E. A. Braunlin
16. A Novel Double Mutation in the
Masashi Morita, Junpei Kobayashi, Kozue Yamazaki, Kosuke Kawaguchi, Ayako Honda, Kenji Sugai, Nobuyuki Shimozawa, Reiji Koide, Tsuneo Imanaka
17. Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy
Malcolm Proudfoot, Philip Jardine, Agne Straukiene, Rupert Noad, Andrew Parrish, Sian Ellard, Stuart Weatherby
18. Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation
Pratibha Singhi, Linda Meirleir, Willy Lissens, Sunit Singhi, Arushi Gahlot Saini
19. The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients
Michel Tchan, M. Westbrook, G. Wilcox, R. Cutler, N. Smith, R. Penman, B. J. G. Strauss, B. Wilcken
20. Fatal and Unanticipated Cardiorespiratory Disease in a Two-Year-Old Child with Hurler Syndrome Following Successful Stem Cell Transplant
Sampada Gupta, Anne O’Meara, Robert Wynn, Michael McDermott
Avainsanat: Biomedicine, Human Genetics, Metabolic Diseases, Pediatrics, Human Physiology
- Tekijä(t)
- Zschocke, Johannes
- Gibson, K Michael
- Brown, Garry
- Morava, Eva
- Peters, Verena
- Julkaisija
- Springer
- Julkaisuvuosi
- 2013
- Kieli
- en
- Painos
- 2013
- Sarja
- JIMD Reports
- Sivumäärä
- 6 sivua
- Kategoria
- Terveys, kauneus, muoti
- Tiedostomuoto
- E-kirja
- eISBN (PDF)
- 9783642373343