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Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia

Orphanet journal of rare diseases, 2024-03, Vol.19 (1), p.126-126, Article 126

2024

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Genotype-phenotype correlations, surgical selections, and postoperative complications of 5a-reductase 2 deficiency in 69 children with hypospadias

Asian journal of andrology, 2023-11, Vol.25 (6), p.731-736

2023

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Relationship of Glucagon-like Peptide 1 and Peptide YY with Catch-up Growth in Children Born Small for Gestational Age

Journal of clinical research in pediatric endocrinology, 2024-03, Vol.16 (1), p.69-75

2024

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Efficacy and safety of human chorionic gonadotropin combined with human menopausal gonadotropin and a gonadotropin-releasing hormone pump for male adolescents with congenital hypogonadotropic hypogonadism

Chinese medical journal, 2021-05, Vol.134 (10), p.1152-1159

2021

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Early recombinant human growth hormone treatment improves mental development and alleviates deterioration of motor function in infants and young children with Prader–Willi syndrome

World journal of pediatrics : WJP, 2023-05, Vol.19 (5), p.438-449

2023

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Possible role of birth weight on general and central obesity in Chinese children and adolescents: a cross-sectional study

Annals of epidemiology, 2015-10, Vol.25 (10), p.748-752

2015

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A Chinese girl with Turner syndrome and Duchenne muscular dystrophy: diagnosis and management of this "dual diagnosis"

Chinese medical journal, 2021-03, Vol.134 (6), p.743-745

2021

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Final adult height of children with idiopathic short stature: a multicenter study on GH therapy alone started during peri-puberty

BMC pediatrics, 2020-03, Vol.20 (1), p.138-138, Article 138

2020

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A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema

Chinese medical journal, 2019-02, Vol.132 (4), p.480-482

2019

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Reference intervals for steroid hormones in healthy 6- to 15-year-old girls based on liquid chromatography-tandem mass spectrometry in China

Chinese medical journal, 2020-05, Vol.133 (10), p.1239-1241

2020

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Access to Orphan Drugs is a Challenge for Sustainable Management of Cystinosis in China

Chinese medical journal, 2018-10, Vol.131 (19), p.2388-2389

2018

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Pseudohypoaldosteronism Type II Caused by CUL3 Mutation Presented with Visual Impairment

Chinese medical journal, 2018-08, Vol.131 (15), p.1879-1881

2018

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Clinical Incidence and Characteristics of Newly Diagnosed Type 1 Diabetes in Chinese Children and Adolescents: A Nationwide Registry Study of 34 Medical Centers

Frontiers in pediatrics, 2022-06, Vol.10, p.888370-888370

2022

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Correlation between blood glucose fluctuations and activation of oxidative stress in type 1 diabetic children during the acute metabolic disturbance period

Chinese medical journal, 2013-11, Vol.126 (21), p.4019-4022

2013

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Status and trends of diabetes in Chinese children: analysis of data from 14 medical centers

World journal of pediatrics : WJP, 2013-05, Vol.9 (2), p.127-134

2013

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Efficacy and Safety of Domestic Leuprorelin in Girls with Idiopathic Central Precocious Puberty： A Multicenter,Randomized, Parallel, Controlled Trial

Chinese medical journal, 2015-05, Vol.128 (10), p.1314-1320

2015

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Liquid Chromatography-Tandem Mass Spectrometry-Based Characterization of Steroid Hormone Profiles in Healthy 6 to 14-Year-Old Male Children

Chinese medical journal, 2018-04, Vol.131 (7), p.862-866

2018

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Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients

Journal of Diabetes Research, 2018-01, Vol.2018 (2018), p.1-6

2018

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Genotype-phenotype correlations, surgical selections, and postoperative complications of 5α-reductase 2 deficiency in 69 children with hypospadias

Asian journal of andrology, 2023-11, Vol.25 (6), p.731-736

2023

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A new mutation in the thyroid hormone receptor gene of a Chinese family with resistance to thyroid hormone

Chinese medical journal, 2011-06, Vol.124 (12), p.1835-1839

2011

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Clinical, biochemical, molecular and therapeutic characteristics of four new patients of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Clinica chimica acta, 2020-10, Vol.509, p.83-90

2020

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Effectiveness of Multiple Daily Injections or Continuous Subcutaneous Insulin Infusion for Children with Type 1 Diabetes Mellitus in Clinical Practice

International Journal of Endocrinology, 2014-01, Vol.2014 (2014), p.41-46-104

2014

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Genetic variations in SEC16B, MC4R, MAP2K5 and KCTD15 were associated with childhood obesity and interacted with dietary behaviors in Chinese school-age population

Gene, 2015-04, Vol.560 (2), p.149-155

2015

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Effects of oral testosterone undecanoate treatment for severe hypospadias

International urology and nephrology, 2015-06, Vol.47 (6), p.875-880

2015

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The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population

Journal of Pediatric Endocrinology and Metabolism, 2019-04, Vol.32 (4), p.375-382

2019

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Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia

Genotype-phenotype correlations, surgical selections, and postoperative complications of 5a-reductase 2 deficiency in 69 children with hypospadias

Relationship of Glucagon-like Peptide 1 and Peptide YY with Catch-up Growth in Children Born Small for Gestational Age

Efficacy and safety of human chorionic gonadotropin combined with human menopausal gonadotropin and a gonadotropin-releasing hormone pump for male adolescents with congenital hypogonadotropic hypogonadism

Early recombinant human growth hormone treatment improves mental development and alleviates deterioration of motor function in infants and young children with Prader–Willi syndrome

Possible role of birth weight on general and central obesity in Chinese children and adolescents: a cross-sectional study

A Chinese girl with Turner syndrome and Duchenne muscular dystrophy: diagnosis and management of this "dual diagnosis"

Final adult height of children with idiopathic short stature: a multicenter study on GH therapy alone started during peri-puberty

A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema

Reference intervals for steroid hormones in healthy 6- to 15-year-old girls based on liquid chromatography-tandem mass spectrometry in China

Access to Orphan Drugs is a Challenge for Sustainable Management of Cystinosis in China

Pseudohypoaldosteronism Type II Caused by CUL3 Mutation Presented with Visual Impairment

Clinical Incidence and Characteristics of Newly Diagnosed Type 1 Diabetes in Chinese Children and Adolescents: A Nationwide Registry Study of 34 Medical Centers

Correlation between blood glucose fluctuations and activation of oxidative stress in type 1 diabetic children during the acute metabolic disturbance period

Status and trends of diabetes in Chinese children: analysis of data from 14 medical centers

Efficacy and Safety of Domestic Leuprorelin in Girls with Idiopathic Central Precocious Puberty： A Multicenter,Randomized, Parallel, Controlled Trial

Liquid Chromatography-Tandem Mass Spectrometry-Based Characterization of Steroid Hormone Profiles in Healthy 6 to 14-Year-Old Male Children

Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients

Genotype-phenotype correlations, surgical selections, and postoperative complications of 5α-reductase 2 deficiency in 69 children with hypospadias

A new mutation in the thyroid hormone receptor gene of a Chinese family with resistance to thyroid hormone

Clinical, biochemical, molecular and therapeutic characteristics of four new patients of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Effectiveness of Multiple Daily Injections or Continuous Subcutaneous Insulin Infusion for Children with Type 1 Diabetes Mellitus in Clinical Practice

Genetic variations in SEC16B, MC4R, MAP2K5 and KCTD15 were associated with childhood obesity and interacted with dietary behaviors in Chinese school-age population

Effects of oral testosterone undecanoate treatment for severe hypospadias

The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population

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