JIMD Reports, Volume 45

Front Matter ....Pages i-vi
 I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease  (Rachel Edmiston, Stuart Wilkinson, Simon Jones, Karen Tylee, Alexander Broomfield, Iain A. Bruce)....Pages 1-8
 Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency  (Heng Wang, Valerie Sency, Paul McJarrow, Alicia Bright, Qianyang Huang, Karen Cechner et al.)....Pages 9-20
 Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases  (Chenia Caldeira Martinez, Tássia Tonon, Tatiéle Nalin, Lilia Farret Refosco, Carolina Fischinger Moura de Souza, Ida Vanessa Doederlein Schwartz)....Pages 21-27
 Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience  (Naresh P. Shanmugam, Joseph J. Valamparampil, Mettu Srinivas Reddy, Khoula Julenda Al Said, Khalid Al-Thihli, Nadia Al-Hashmi et al.)....Pages 29-36
 A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy  (B. Ryder, M. Tolomeo, Z. Nochi, M. Colella, M. Barile, R. K. Olsen et al.)....Pages 37-44
 The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism  (Colin P. Hawkes, Juan J. Lado, Stephanie Givler, Diva D. De Leon)....Pages 45-50
 Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV  (Tavleen Sandhu, Michelle Polan, Zhongxin Yu, Rufei Lu, Abhishek Makkar)....Pages 51-55
 Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy  (Thomas M. Kitzler, Indra R. Gupta, Bradley Osterman, Chantal Poulin, Yannis Trakadis, Paula J. Waters et al.)....Pages 57-63
 Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1  (André B. P. van Kuilenburg, Judith Meijer, Rutger Meinsma, Belén Pérez-Dueñas, Marielle Alders, Zahurul A. Bhuiyan et al.)....Pages 65-69
 Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency  (Christina Peroutka, Jacqueline Salas, Jacquelyn Britton, Juliet Bishop, Lisa Kratz, Maureen M. Gilmore et al.)....Pages 71-76
 Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series  (Pehuén Fernández, Shunko Oscar Fernández, Jacqueline Griselda Mariela Gonzalez, Tabaré Fernández, Cinthia Claudia Fernández, Segundo Pastor Fernández)....Pages 77-81
 Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency  (Molly McPheron, Melissa Lah)....Pages 83-87
 The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation  (G. V. Baydakova, T. A. Ivanova, S. V. Mikhaylova, D. Kh. Saydaeva, L. L. Dzhudinova, A. I. Akhlakova et al.)....Pages 89-93
 Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant  (Andrew Talbot, Kathy Nicholls)....Pages 95-98
 Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?  (Imre F. Schene, Christoph G. Korenke, Hidde H. Huidekoper, Ludo van der Pol, Dennis Dooijes, Johannes M. P. J. Breur et al.)....Pages 99-104
 A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency  (Andrea Medrano Behlmann, Namita A. Goyal, Xiaoyu Yang, Ping H. Chen, Arunkanth Ankala)....Pages 105-110