Frontmatter

Artikel in diesem Heft

1. Frontmatter
2. Review
3. Resistance to thyroid hormone α, revelation of basic study to clinical consequences
4. Original Articles
5. Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach
6. Safety and metabolic impact of Ramadan fasting in children and adolescents with type 1 diabetes
7. Waist-to-height ratio as a marker of low-grade inflammation in obese children and adolescents
8. Classification and clinical characterization of metabolically “healthy” obese children and adolescents
9. Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia – effect on median Phe/Tyr ratios
10. Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism
11. Prevalence and clinical features of polycystic ovarian syndrome in adolescents with previous childhood growth hormone deficiency
12. Urate crystals deposition in the feet of overweight juveniles and those with symptomatic hyperuricemia: a dual-energy CT study
13. A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome
14. Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family
15. Pituitary gigantism: a retrospective case series
16. Case Reports
17. A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency
18. A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome
19. A 33-year-old male patient with paternal derived duplication of 14q11.2–14q22.1~22.3: clinical course, phenotypic and genotypic findings
20. Familial Turner syndrome: the importance of information
21. De novo mutation of PHEX in a type 1 diabetes patient
22. Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase