JIMD Reports - Case and Research Reports, 2012/2

1. Front Matter

   Pages i-vii

   PDF

2. Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias

   • Ahmad N. Alodaib, Kevin Carpenter, Veronica Wiley, Tiffany Wotton, John Christodoulou, Bridget Wilcken

   Pages 1-6

3. Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism

   • Mashbat Bayarchimeg, Dunia Ismail, Amanda Lam, Derek Burk, Jeremy Kirk, Wolfgang Hogler et al.

   Pages 7-11

4. 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

   Pages 13-16

5. Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease

   • Daniel T. Swarr, Beth Kaufman, Mark A. Fogel, Richard Finkel, Jaya Ganesh

   Pages 17-20

6. 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

   Pages 21-25

7. Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience

   • A. Vanclooster, R. Devlieger, W. Meersseman, A. Spraul, K. Vande Kerckhove, P. Vermeersch et al.

   Pages 27-33

8. 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

   Pages 35-43

9. 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 et al.

   Pages 45-48

10. Alkaptonuria: Leading to the Treasure in Exceptions

    • Timothy M. Cox

    Pages 49-57

11. 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 et al.

    Pages 59-70

12. 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

    Pages 71-75

13. Successful Noninvasive Ventilation and Enzyme Replacement Therapy in an Adult Patient with Morbus Hunter

    • M. Westhoff, P. Litterst

    Pages 77-82

14. 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

    Pages 83-88

15. A Rare Galactosemia Complication: Vitreous Hemorrhage

    • Sahin Takci, Sibel Kadayifcilar, Turgay Coskun, Sule Yigit, Burcu Hismi

    Pages 89-93

16. 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

    Pages 95-98

17. 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

    Pages 99-107

18. Severe Infusion Reactions to Fabry Enzyme Replacement Therapy: Rechallenge After Tracheostomy

    • K. Nicholls, K. Bleasel, G. Becker

    Pages 109-112

19. 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. van den Heuvel, R. J. Rodenburg

    Pages 113-122

20. Expanding the Spectrum of PMM2-CDG Phenotype

    • Sandrine Vuillaumier-Barrot, Bertrand Isidor, Thierry Dupré, Christiane Le Bizec, Albert David, Nathalie Seta

    Pages 123-125

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.

• endocrinology
• inherited metabolic diseases
• medical genetics
• pediatrics
• metabolic disease

• c/o ACB, London, United Kingdom

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