JIMD Reports, Volume 34

1. Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype
Jun Sun, Angela J McGillivray, Jason Pinner, Zhihui Yan, Fengxia Liu, Drago Bratkovic, Elizabeth Thompson, Xiuxiu Wei, Huifeng Jiang, Asan, Maya Chopra

2. Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs
Katarzyna A. Ellsworth, Laura M. Pollard, Sara Cathey, Tim Wood

3. The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965–2014
Annika Ohlsson, Helene Bruhn, Anna Nordenström, Rolf H. Zetterström, Anna Wedell, Ulrika Döbeln

4. DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion
C. Bursle, D. Brown, J. Cardinal, F. Connor, S. Calvert, D. Coman

5. Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review
Ashwini Maratha, Hugh-Owen Colhoun, Ina Knerr, Karen P. Coss, Peter Doran, Eileen P. Treacy

6. Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen
Rebecca D. Ganetzky, Emma Bedoukian, Matthew A. Deardorff, Can Ficicioglu

7. Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients
M. M. Welsink-Karssies, J. A. W. Polderman, E. J. Nieveen van Dijkum, B. Preckel, W. S. Schlack, G. Visser, C. E. Hollak, J. Hermanides

8. Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency
Shane C. Quinonez, Andrea H. Seeley, Cindy Lam, Thomas W. Glover, Bruce A. Barshop, Catherine E. Keegan

9. Delayed Infusion Reactions to Enzyme Replacement Therapies
Zahra Karimian, Chester B. Whitley, Kyle D. Rudser, Jeanine R. Jarnes Utz

10. Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder
C. Maxit, I. Denzler, D. Marchione, G. Agosta, J. Koster, R. J. A. Wanders, S. Ferdinandusse, H. R. Waterham

11. Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria
Susan E. Waisbren, Sanjay P. Prabhu, Patricia Greenstein, Carter Petty, Donald Schomer, Vera Anastasoaie, Kalin Charette, Daniel Rodriguez, Sai Merugumala, Alexander P. Lin

12. Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables
Ana Claudia Marquim F. Araújo, Wilma M. C. Araújo, Ursula M. Lanfer Marquez, Rita Akutsu, Eduardo Y. Nakano

13. Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance
Laura M. Tanner, Johanna Kurko, Maaria Tringham, Heikki Aho, Juha Mykkänen, Kirsti Näntö-Salonen, Harri Niinikoski, Heikki Lukkarinen

14. COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis
C. Bursle, A. Narendra, R. Chuk, J. Cardinal, R. Justo, B. Lewis, D. Coman

15. Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency
Savita Verma Attri, Pratibha Singhi, Natrujee Wiwattanadittakul, Jyotindra N. Goswami, Naveen Sankhyan, Gajja S. Salomons, Jean-Baptiste Roullett, Ryan Hodgeman, Mahsa Parviz, K. Michael Gibson, Phillip L. Pearl

Keywords: Biomedicine, Human Genetics, Metabolic Diseases, Pediatrics, Molecular Medicine