A case of PHACE syndrome with growth hormone deficiency and abnormal thyroid functions
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - September 11, 2019 Category: Endocrinology Source Type: research

Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - September 11, 2019 Category: Endocrinology Source Type: research

Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - September 11, 2019 Category: Endocrinology Source Type: research

Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - September 11, 2019 Category: Endocrinology Source Type: research

Providing quality care for children and adolescents with diabetes from lower-income families in Mexico
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - September 11, 2019 Category: Endocrinology Source Type: research

Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - September 11, 2019 Category: Endocrinology Source Type: research

Sex differences in infant body composition emerge in the first 5 months of life
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - September 11, 2019 Category: Endocrinology Source Type: research

Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - September 11, 2019 Category: Endocrinology Source Type: research

Can preimplantation genetic diagnosis be used for monogenic endocrine diseases?
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - September 11, 2019 Category: Endocrinology Source Type: research

Severe arterial hypertension and hyperandrogenism in a boy: a rare case of catecholamine- and β-HCG-secreting pheochromocytoma
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - September 11, 2019 Category: Endocrinology Source Type: research

Validation of a risk screening tool for pediatric type 1 diabetes patients: a predictor of increased acute health care utilization
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - September 11, 2019 Category: Endocrinology Source Type: research

Changes in body mass index in children on gonadotropin-releasing hormone agonist therapy with precocious puberty, early puberty or short stature
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - August 29, 2019 Category: Endocrinology Source Type: research

Characterization of the duration of treatment with diazoxide in infants with prolonged hyperinsulinism (PHI)
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - August 29, 2019 Category: Endocrinology Source Type: research

Congenital hypothyroidism in preterm infants: a 3- to 8-year longitudinal study in southern Thailand
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - August 29, 2019 Category: Endocrinology Source Type: research

Optic nerve sheath diameter ultrasound measurement to evaluate cerebral edema in children with diabetic ketoacidosis
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - August 29, 2019 Category: Endocrinology Source Type: research