JIMD Reports, Volume 24

Front Matter....Pages i-vi
Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations....Pages 3-11
Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria....Pages 13-20
Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with Alkaptonuria....Pages 21-27
Investigating the Robustness and Diagnostic Potential of Extracellular Matrix Remodelling Biomarkers in Alkaptonuria....Pages 29-37
Age-Related Deviation of Gait from Normality in Alkaptonuria....Pages 39-44
Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice....Pages 45-50
The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical Analysis....Pages 51-66
Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers....Pages 69-81
Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor....Pages 83-89
CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency....Pages 91-96
A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy....Pages 97-102
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil....Pages 103-107
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency....Pages 109-113
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis....Pages 115-122
High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type Ia....Pages 123-128