Small nuclear ribonucleoprotein polypeptide N quantitative methylation analysis in infants with central hypotonia

Articles in the same Issue

1. Editorial
2. Pitfalls for bone age measurement
4. Bone disease and cytokines in idiopathic hypercalciuria: a review
5. Cord blood adiponectin and infant growth at one year
6. Plasma visfatin and adiponectin concentrations in physically active adolescent girls: relationships with insulin sensitivity and body composition variables
7. Gender differences exist in the association of leptin and adiponectin levels with insulin resistance parameters in prepubertal Arab children
8. Development and linear growth in diabetic children receiving insulin pigment
9. Genotypes of p53 codon 72 correlate with age at onset of type 1 diabetes in a sex-specific manner
10. A prospective clinical pilot-trial comparing the effect of an optimized mixed diet versus a flexible low-glycemic index diet on nutrient intake and HbA_1c levels in children with type 1 diabetes
11. Low-dose insulin therapy in patients with cystic fibrosis and early-stage insulinopenia prevents deterioration of lung function: a 3-year prospective study
12. Short communication
13. Italian pediatric data support hypothesis that simultaneous epidemics of type 1 diabetes and type 2 diabetes/metabolic syndrome/obesity are polar opposite responses (i.e., symptoms) to a primary inflammatory condition
14. Adult height after growth hormone treatment in Japanese children with idiopathic growth hormone deficiency: analysis from the KIGS Japan database
15. Growth patterns of large, small, and appropriate for gestational age infants: impacts of long-term breastfeeding: a retrospective cohort study
16. Body image and sexual interests in adolescents and young adults with Prader–Willi syndrome
17. Growth hormone secretory pattern in non-obese children and adolescents with Prader-Willi syndrome
18. The effect of corrective surgery on serum IGF-1, IGFBP-3 levels and growth in children with congenital heart disease
19. Patient preference for a new growth hormone injection device: results of an open-label study in Japanese pediatric patients
20. DXA surrogates for visceral fat are inversely associated with bone density measures in adolescent athletes with menstrual dysfunction
21. Evaluation of bone density in girls with precocious and early puberty during treatment with GnRH agonist
22. Comparative analysis of clinical, biochemical and genetic aspects associated with bone mineral density in small for gestational age children
23. Outcome of gonadotropin-releasing analog treatment for children with central precocious puberty: 15-year experience in southern Thailand
24. Ovarian function in adolescents with McCune-Albright syndrome
25. Hypothalamic-pituitary-adrenal axis suppression in asthmatic children on inhaled and nasal corticosteroids – more common than expected?
26. Clinical characteristics of adrenocortical tumors in children
27. Preimplantation genetic diagnosis (PGD) – prevention of the birth of children affected with endocrine diseases
28. The usefulness of ultrasound in follow-up of a patient with dyshormonogenetic congenital hypothyroidism
29. Accelerated carpal bone maturation in juvenile idiopathic arthritis: pitfall for bone age measurement
30. Case reports
31. Hypokalaemic paralysis in a 15-year-old boy with 11β-hydroxylase deficiency
32. Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy
33. Continuous subcutaneous hydrocortisone infusion (CSHI) in a young adolescent with congenital adrenal hyperplasia (CAH)
34. Causes and consequences of abandoning one-stage bilateral adrenalectomy recommended in primary pigmented nodular adrenocortical disease – case presentation
35. Short stature in a patient with familial glucocorticoid deficiency
36. Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome
37. Entire prophet of Pit-1 (PROP-1) gene deletion in an Indian girl with combined pituitary hormone deficiencies
38. Diabetes in young – unusual case presentation
39. Patient reports
40. Two cases of 22q11.2 deletion syndrome with anorectal anomalies and growth retardation
41. A 3-year-old boy with ovotestes: gender reassignment and surgical management
42. Case reports
43. A 5-year-old boy with atrophic autoimmune thyroiditis caused by thyroid-stimulation blocking antibodies
44. Small nuclear ribonucleoprotein polypeptide N quantitative methylation analysis in infants with central hypotonia
45. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
46. Pulmonary hypertension and reopening of the ductus arteriosus in an infant treated with diazoxide
47. Commentary
48. Using genetic tests for talent identification in sports: too soon to be true
49. Letter to the Editors
50. Insulin resistance and the metabolic syndrome in obese children
51. Graves’ disease in a Down’s syndrome patient responds well to radioiodine rather than antithyroid drugs
52. Aortic intima-media thickness and lipid profile in neonates born to mothers with pre-eclampsia: weak or strong relations?
53. Meetings
54. Meetings Calendar