JIMD Reports - Case and Research Reports, 2012/2

1. Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias
Ahmad N. Alodaib, Kevin Carpenter, Veronica Wiley, Tiffany Wotton, John Christodoulou, Bridget Wilcken

2. Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism
Mashbat Bayarchimeg, Dunia Ismail, Amanda Lam, Derek Burk, Jeremy Kirk, Wolfgang Hogler, Sarah E Flanagan, Sian Ellard, Khalid Hussain

3. Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient
Christiaan P. Sentner, Kadir Caliskan, Wim B. Vletter, G. Peter A. Smit

4. Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease
Daniel T. Swarr, Beth Kaufman, Mark A. Fogel, Richard Finkel, Jaya Ganesh

5. The Use of Elevated Doses of Genistein-Rich Soy Extract in the Gene Expression-Targeted Isoflavone Therapy for Sanfilippo Disease Patients
Věra Malinová, Grzegorz Węgrzyn, Magdalena Narajczyk

6. Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience
A. Vanclooster, R. Devlieger, W. Meersseman, A. Spraul, K. Vande Kerckhove, P. Vermeersch, A. Meulemans, K. Allegaert, D. Cassiman

7. Molybdenum Cofactor Deficiency: A New HPLC Method for Fast Quantification of S-Sulfocysteine in Urine and Serum
Abdel Ali Belaidi, Sita Arjune, Jose Angel Santamaria-Araujo, Jörn Oliver Sass, Guenter Schwarz

8. Adenine Phosphoribosyltransferase Deficiency: An Underdiagnosed Cause of Lithiasis and Renal Failure
Giuseppina Marra, Paolo Gilles Vercelloni, Alberto Edefonti, Gianantonio Manzoni, Maria Angela Pavesi, Giovanni Battista Fogazzi, Giuseppe Garigali, Lionel Mockel, Irene Ceballos Picot

9. Alkaptonuria: Leading to the Treasure in Exceptions
Timothy M. Cox

10. Chaperone-Like Therapy with Tetrahydrobiopterin in Clinical Trials for Phenylketonuria: Is Genotype a Predictor of Response?
Christineh N. Sarkissian, Alejandra Gamez, Patrick Scott, Jerome Dauvillier, Alejandro Dorenbaum, Charles R. Scriver, Raymond C. Stevens

11. Riboflavin-Responsive Trimethylaminuria in a Patient with Homocystinuria on Betaine Therapy
Nigel J. Manning, Elizabeth K. Allen, Richard J. Kirk, Mark J. Sharrard, Edwin J. Smith

12. Successful Noninvasive Ventilation and Enzyme Replacement Therapy in an Adult Patient with Morbus Hunter
M. Westhoff, P. Litterst

13. Hyperargininemia: A Family with a Novel Mutation in an Unexpected Site
Y. Haimi Cohen, R. Bargal, M. Zeigler, T. Markus-Eidlitz, V. Zuri, A. Zeharia

14. A Rare Galactosemia Complication: Vitreous Hemorrhage
Sahin Takci, Sibel Kadayifcilar, Turgay Coskun, Sule Yigit, Burcu Hismi

15. Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrum of Early Onset Gaucher Disease
Abdallah F. Elias, Maria Ronningen Johnson, John K. Boitnott, David Valle

16. Clinical and Biochemical Profiles of Maple Syrup Urine Disease in Malaysian Children
Z Md. Yunus, DP Abg Kamaludin, M Mamat, Y S Choy, LH Ngu

17. Severe Infusion Reactions to Fabry Enzyme Replacement Therapy: Rechallenge After Tracheostomy
K. Nicholls, K. Bleasel, G. Becker

18. Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1

S. Balasubramaniam, Y. S. Choy, A. Talib, M. D. Norsiah, L. P. Heuvel, R. J. Rodenburg

19. Expanding the Spectrum of PMM2-CDG Phenotype
Sandrine Vuillaumier-Barrot, Bertrand Isidor, Thierry Dupré, Christiane Bizec, Albert David, Nathalie Seta

20. The Ketogenic Diet Is Well Tolerated and Can Be Effective in Patients with Argininosuccinate Lyase Deficiency and Refractory Epilepsy
Rosanne Peuscher, Monique E. Dijsselhof, Nico G. Abeling, Margreet Rijn, Francjan J. Spronsen, Annet M. Bosch

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