JIMD Reports, Volume 22

Chapter 371 Innate and Adaptive Immune Response in Fabry Disease.

Chapter 405 Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism

Chapter 406 Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias.

Chapter 407 Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide

Chapter 408 Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium

Chapter 409 Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy

Chapter 410 Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under l -DOPA, 5-HTP and BH4 Trials

Chapter 411 Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms

Chapter 413 Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy

Chapter 414 Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy

Chapter 415 Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia.

Chapter 416 Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing.

Chapter 417 Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Signatures

Chapter 418 Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)

Chapter 419 Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.