Rare cases of galactose metabolic disorders: identification of more than two mutations per patient

Artikel in diesem Heft

1. Frontmatter
2. Review
3. Individualised growth response optimisation (iGRO) tool: an accessible and easy-to-use growth prediction system to enable treatment optimisation for children treated with growth hormone
4. Original Articles
5. Relation of insulin resistance to neurocognitive function and electroencephalography in obese children
6. Body weight misperception and health-related factors among Iranian children and adolescents: the CASPIAN-V study
7. Do sufficient vitamin D levels at the end of summer in children and adolescents provide an assurance of vitamin D sufficiency at the end of winter? A cohort study
8. Type 3 renal tubular acidosis associated with growth hormone deficiency
9. Serum α-klotho levels are not informative for the evaluation of growth hormone secretion in short children
10. Evaluation of neurodevelopment of children with congenital hypothyroidism by the Denver Developmental Screening Test
11. Pediatric differentiated thyroid carcinoma: trends in practice and outcomes over 40 years at a single tertiary care institution
12. Physical activity and bone mineral density at the femoral neck subregions in adolescents with Down syndrome
13. A pilot study on the utility of reduced urine collection frequency protocols for the assessment of reproductive hormones in adolescent girls
14. MODY in Ukraine: genes, clinical phenotypes and treatment
15. A retrospective review of initial bisphosphonate infusion in an inpatient vs. outpatient setting for bisphosphonate naïve patients
16. Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism
17. Letter to the Editor
18. Rare cases of galactose metabolic disorders: identification of more than two mutations per patient
19. Case Reports
20. When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria
21. Pseudohypoparathyroidism type 1B associated with assisted reproductive technology
22. Long QT syndrome diagnosed in two sisters with propionic acidemia: a case report
23. Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling