Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn

Articles in the same Issue

1. Frontmatter
2. Review
3. Role of nutrition in preventing insulin resistance in children
4. Original Articles
5. Reduced frequency and severity of ketoacidosis at diagnosis of childhood type 1 diabetes in Northwest Saudi Arabia
6. Differences in parental involvement in the care of children and adolescents with type 1 diabetes mellitus on multiple daily insulin injections versus continuous subcutaneous insulin infusion
7. Value of the intrarenal arterial resistivity indices and different renal biomarkers for early identification of diabetic nephropathy in type 1 diabetic patients
8. Remission of congenital hyperinsulinism following conservative treatment: an exploratory study in patients with K_ATP channel mutations
9. Relationship between visceral obesity and plasma fibrinogen in obese children
10. Diagnostic approach in children with unusual symptoms of acquired hypothyroidism. When to look for pituitary hyperplasia?
11. The shortened combined clonidine and arginine test for growth hormone deficiency is practical and specific: a diagnostic accuracy study
12. Bone maturation along the spectrum from normal weight to obesity: a complex interplay of sex, growth factors and weight gain
13. Outcomes analysis of radioactive iodine and total thyroidectomy for pediatric Graves’ disease
14. Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation
15. Odontoiatric perspectives and osteonecrosis of the jaw as a possible adverse effect of bisphosphonates therapy in fibrous dysplasia and McCune-Albright syndrome
16. The relation of urinary bisphenol A with kisspeptin in girls diagnosed with central precocious puberty and premature thelarche
17. Pattern of teen menstruation among secondary school girls in south east Nigeria
18. Should children with isolated premature adrenarche be routinely evaluated for non-classical congenital adrenal hyperplasia?
19. Anxiety, depression and self-esteem levels in obese children: a case-control study
20. Case Reports
21. Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2
22. Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis
23. A first case report of UDP-galactose-4′-epimerase deficiency in China: genotype and phenotype
24. A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA)
25. Letter to the Editor
26. Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn