Article
Publicly Available
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Published/Copyright:
September 22, 2016
Published Online: 2016-9-22
Published in Print: 2016-9-1
©2016 Walter de Gruyter GmbH, Berlin/Boston
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- A germline mutation of HRPT2/CDC73 (70 G>T) in an adolescent female with parathyroid carcinoma: first case report and a review of the literature
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- Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges
- In children with autoimmune thyroid diseases the association with Down syndrome can modify the clustering of extra-thyroidal autoimmune disorders
- Identification of monogenic gene mutations in Japanese subjects diagnosed with type 1B diabetes between >5 and 15.1 years of age
- Referral pattern of children with short stature to a pediatric endocrine clinic in Kuwait
- Factors associated with post-menarcheal growth: results of a longitudinal study in Chilean girls from different socioeconomic statuses
- Percentiles for anthropometric measures in Iranian children and adolescents: the CASPIAN-IV study
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- Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature
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- A girl with permanent neonatal diabetes due to KCNJ11 mutation presented with Mauriac syndrome after improper adjustment in sulfonylurea dosage over 6 years
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Articles in the same Issue
- Frontmatter
- Review
- A germline mutation of HRPT2/CDC73 (70 G>T) in an adolescent female with parathyroid carcinoma: first case report and a review of the literature
- Original Articles
- Seroprotection status of hepatitis B and measles vaccines in children with type 1 diabetes mellitus
- Prevalence and awareness of functional and structural foot abnormalities in children and adolescents with type 1 diabetes
- WHO European Childhood Obesity Surveillance Initiative in Serbia: a prevalence of overweight and obesity among 6–9-year-old school children
- Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges
- In children with autoimmune thyroid diseases the association with Down syndrome can modify the clustering of extra-thyroidal autoimmune disorders
- Identification of monogenic gene mutations in Japanese subjects diagnosed with type 1B diabetes between >5 and 15.1 years of age
- Referral pattern of children with short stature to a pediatric endocrine clinic in Kuwait
- Factors associated with post-menarcheal growth: results of a longitudinal study in Chilean girls from different socioeconomic statuses
- Percentiles for anthropometric measures in Iranian children and adolescents: the CASPIAN-IV study
- Hormone disorder and vitamin deficiency in attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASDs)
- Case Reports
- Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature
- Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings
- A girl with permanent neonatal diabetes due to KCNJ11 mutation presented with Mauriac syndrome after improper adjustment in sulfonylurea dosage over 6 years
- Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases
- A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel
