Login

JIMD Reports - Case and Research Reports, 2011/3

 - JIMD Reports - Case and Research Reports, 2011/3, ebook

132,70€

Ebook, PDF with Adobe DRM
ISBN: 9783642249365
DRM Restrictions

PrintingNot allowed
Copy to clipboardNot allowed

Table of contents

1. Liver Failure with Coagulopathy, Hyperammonemia and Cyclic Vomiting in a Toddler Revealed to Have Combined Heterozygosity for Genes Involved with Ornithine Transcarbamylase Deficiency and Wilson Disease
Valerie Mira, Richard G. Boles

2. Large Mitochondrial DNA Deletion in an Infant with Addison Disease
Gloria P. Duran, A. Martinez-Aguayo, H. Poggi, M. Lagos, D. Gutierrez, P. R. Harris

3. Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark
Luise Borch, Allan Meldgaard Lund, Flemming Wibrand, Ernst Christensen, Charlotte Søndergaard, Birthe Gahrn, David Michael Hougaard, Brage Storstein Andresen, Niels Gregersen, Rikke Katrine Jentoft Olsen

4. Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency
M. Kilic, R. K. Özgül, T. Coşkun, D. Yücel, M. Karaca, H. S. Sivri, A. Tokatli, M. Şahin, T. Karagöz, A. Dursun

5. Kinetic Analyses Guide the Therapeutic Decision in a Novel Form of Moderate Aromatic Acid Decarboxylase Deficiency
M. Barth, V. Serre, L. Hubert, Y. Chaabouni, N. Bahi-Buisson, M. Cadoudal, D. Rabier, S. Nguyen The Tich, M. Ribeiro, D. Ricquier, A. Munnich, D. Bonneau, P. Lonlay, L. Christa

6. Effect of Reduced Agalsidase Beta Dosage in Fabry Patients: The Australian Experience
Joanna Ghali, Kathy Nicholls, Charles Denaro, David Sillence, Ian Chapman, Jack Goldblatt, Mark Thomas, Janice Fletcher

7. Miglustat Treatment May Reduce Cerebrospinal Fluid Levels of the Axonal Degeneration Marker Tau in Niemann–Pick Type C
Niklas Mattsson, Henrik Zetterberg, Simona Bianconi, Nicole M. Yanjanin, Rao Fu, Jan-Eric Månsson, Forbes D. Porter, Kaj Blennow

8. A Twelve-Year Follow-Up Study on a Case of Early-Onset Parkinsonism Preceding Clinical Manifestation of Gaucher Disease
Maciej Machaczka, Martin Paucar Arce, Malgorzata Rucinska, Takashi Yoshitake, Jan Kehr, Wojciech Jurczak, Aleksander B. Skotnicki, Jan-Erik Månsson, Anna Tylki-Szymanska, Per Svenningsson

9. Differential Expression of Matrix Metalloproteinases in the Serum of Patients with Mucopolysaccharidoses
Spyros P. Batzios, Dimitrios I. Zafeiriou, Euthymia Vargiami, George Karakiulakis, Eleni Papakonstantinou

10. COG5-CDG with a Mild Neurohepatic Presentation
C. W. Fung, G. Matthijs, L. Sturiale, D. Garozzo, K. Y. Wong, R. Wong, V. Wong, J. Jaeken

11. Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations
Désirée Caselli, Rolando Cimaz, Roberta Besio, Antonio Rossi, Ersilia Lorenzi, Raffaella Colombo, Luca Cantarini, Silvia Riva, Marco Spada, Antonella Forlino, Maurizio Aricò

12. Levodopa Response Reveals Sepiapterin Reductase Deficiency in a Female Heterozygote with Adrenoleukodystrophy
Ronald Thibert, Keith Hyland, Joe Chiles, Steven Steinberg, Florian Eichler

13. Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent Metabolic Decompensation
D. D. J. Habets, N. C. Schaper, H. Rogozinski, F. J. Spronsen, M. Rijn, J. Bierau, J. A. Bakker

14. Hyperoxaluria and Rapid Development of Renal Failure Following a Combined Liver and Kidney Transplantation: Emphasis on Sequential Transplantation
Ahmed M. Alkhunaizi, Nouriya A. Al-Sannaa, Wasim F. Raslan

15. Adult-Onset Presentation of a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Patient Without Prior History of Neurological Complications
Kamer Tezcan, Kristal T. Louie, Yong Qu, Jorge Velasquez, Frank Zaldivar, Natalia Rioseco-Camacho, José Angel Camacho

16. Cerebral Edema in Maple Syrup Urine Disease Despite Newborn Screening Diagnosis and Early Initiation of Treatment
Kenneth A. Myers, Melanie Reeves, Xing-Chang Wei, Aneal Khan

17. Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1

Toshiyuki Fukao, Shinsuke Maruyama, Toshihiro Ohura, Yuki Hasegawa, Mitsuo Toyoshima, Antti M. Haapalainen, Naomi Kuwada, Mari Imamura, Isao Yuasa, Rik K. Wierenga, Seiji Yamaguchi, Naomi Kondo

18. Altered Carbon Dioxide Metabolism and Creatine Abnormalities in Rett Syndrome
Nicky S. J. Halbach, Eric E. J. Smeets, Jörgen Bierau, Irene M. L. W. Keularts, Guy Plasqui, Peter O. O. Julu, Ingegerd Witt Engerström, Jaap A. Bakker, Leopold M. G. Curfs

19. Molecular Genetic Characterization of Novel Sphingomyelin Phosphodiesterase 1 Mutations Causing Niemann–Pick Disease
Beata Tóth, Melinda Erdős, Annamária Székely, László Ritli, Péter Bagossi, János Sümegi, László Maródi

20. Dietary Protein Counting as an Alternative Way of Maintaining Metabolic Control in Phenylketonuria
A. L. Sweeney, R. M. Roberts, J. M. Fletcher

Keywords: Biomedicine, Human Genetics, Metabolic Diseases, Pediatrics, Human Physiology

Publisher
Springer
Publication year
2012
Language
en
Edition
2012
Series
JIMD Reports
Category
Medicine, Health Care, Mode
Format
Ebook
eISBN (PDF)
9783642249365

Similar titles