(e-Pub)

(15) Case Report, (20) Original Article, (3) Review, (1) Letter to the Editor

Case Report

A Cleidocranial Dysplasia Case with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment
  • Emine Çamtosun
  • Ayşehan Akıncı
  • Emine Demiral
  • İbrahim Tekedereli
  • Ahmet Sığırcı
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0211 PMID:30468148
Perinatal form hypophosphatasia caused by a novel large duplication of ALPL gene and one year follow-up under enzyme replacement therapy; a case report
  • Bülent Hacıhamdioğlu
  • Gamze Özgürhan
  • Catarina Pereira
  • Emre Tepeli
  • Gülşah Acar
  • Serdar Cömert
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0217 PMID:30468149
Magnesium and anti-phosphate treatment with bisphosphonates for Generalised Arterial Calcification of Infancy: a case report
  • Fatma Dursun
  • Tülay Atasoy Öztürk
  • Serçin Güven
  • Heves Kırmızıbekmez
  • Gülcan Seymen Karabulut
  • Sevinç Kalın
  • Betül Sözeri
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0204 PMID:30525344
Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy
  • Joanna Oswiecimska
  • Mateusz Dawidziuk
  • Tomasz Gambin
  • Katarzyna Ziora
  • Marta Marek
  • Sylwia Rzonca
  • D. Lys Guilbride
  • Shalini N. Jhangiani
  • Anna Obuchowicz
  • Alicja Sikora
  • James R. Lupski
  • Wojciech Wiszniewski
  • Pawel Gawlinski
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0227 PMID:30563316
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
  • Xia Zhang
  • Yanjie Fan
  • Xiaomin Liu
  • Ming Ang Zhu
  • Yu Sun
  • Hui Yan
  • Yunjuan He
  • Xiantao Ye
  • Xuefan Gu
  • Yongguo Yu
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0220 PMID:30630810
Isolated Growth Hormone Deficiency Type II due to a novel GH1 mutation: A Case Report
  • Ahmad Kautsar
  • Jan M. Wit
  • Aman Pulungan
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0305 PMID:30678423
A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent
  • Sukran Poyrazoglu
  • Vivian Hwa
  • Firdevs Bas
  • Andrew Dauber
  • Ron Rosenfeld
  • Feyza Darendeliler
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0301 PMID:30717585
A Case of Autosomal Dominant Osteopetrosis Type II with a CLCN7 Gene Mutation
  • Sol Kang
  • Young Kyung Kang
  • Jun Ah Lee
  • Dong Ho Kim
  • Jung Sub Lim
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0229 PMID:30759959
Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation
  • Ozlem Nalbantoglu
  • Gulcin Arslan
  • Ozge Koprulu
  • Filiz Hazan
  • Semra Gursoy
  • Behzat Ozkan
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0230 PMID:30905142
Hypophosphatasia: Novel Mutation Associated With An Atypical Newborn Presentation
  • Roger Esmel-Vilomara
  • Susana Hernández
  • Ariadna Campos-Martorell
  • Eva González-Roca
  • Diego Yeste
  • Félix Castillo
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0263 PMID:30929401
Aromatase Deficiency in Two Siblings with 46, XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in CYP19A1 Gene
  • Samim Ozen
  • Tahir Atik
  • Ozlem Korkmaz
  • Huseyin Onay
  • Damla Goksen
  • Ferda Ozkınay
  • Ozgur Cogulu
  • Sukran Darcan
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0198 PMID:30968679
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia
  • Esra Isik
  • Huseyin Onay
  • Tahir Atik
  • Asli Ece Solmaz
  • Samim Ozen
  • Ozgur Cogulu
  • Sukran Darcan
  • Ferda Ozkinay
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0023 PMID:31088041
Carney Complex: Unusual Presentation
  • Aydilek D. Cakır
  • Hande Turan
  • Tiraje Celkan
  • Nil Comunoğlu
  • Oya Ercan
  • Olcay Evliyaoglu
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0043 PMID:31117334
Catecholamine-Induced Myocarditis in a Child with Pheochromocytoma
  • S. Ahmet Uçaktürk
  • Eda Mengen
  • Emine Azak
  • İbrahim İlker Çetin
  • Pınar Kocaay
  • Emrah Şenel
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0045 PMID:31208160
A Rare Etiology of 46, XY Disorder of Sex Development and Adrenal Insufficiency: A case of MIRAGE syndrome caused by mutations in SAMD9 gene
  • Eda Mengen
  • Aynur Kucukcongar Yavas
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0053 PMID:31208161

Original Article

Elevated Random Luteinizing Hormone Is Unreliable Indicator for Pubertal Suppression in Girls Treated with Monthly Leuprolide for Idiopathic Central Precocious Puberty
  • Pattara Wiromrat
  • Ouyporn Panamonta
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0213 PMID:30592192
Early menarche is a risk factor of short stature in young Korean female: Epidemiologic study
  • Sol Kang
  • Yoon Mo Kim
  • Jun Ah Lee
  • Dong Ho Kim
  • Jung Sub Lim
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0274 PMID:30604602
Risk factors for childhood overweight and obesity in Ukraine and Germany
  • Vira Yakovenko
  • Laura Henn
  • Markus Bettendorf
  • Natalia Zelinska
  • Galyna Soloviova
  • Georg F. Hoffmann
  • Juergen Grulich-Henn
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0157 PMID:30630809
The Evaluation of Etiological Distribution and the Rate of Congenital Hypothyroidism among the Cases Referred from National Screening Program
  • Zeynep Donbaloglu
  • Şenay Savaş Erdeve
  • Semra Çetinkaya
  • Zehra Aycan
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0255 PMID:30630811
Associations Between Serum Uric Acid Levels and Cardiometabolic Risk, Renal İnjury in Obese and Overweight Children
  • Deniz Özalp Kızılay
  • Semra Şen
  • Betül Ersoy
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0241 PMID:30759960
Evaluation of IGF1/IGFBP3 Molar Ratio as an Effective Tool for Assessing the Safety of GH Therapy in Small-for-Gestational-Age, GH-Deficient and Prader-Willi Children
  • Meriem Gaddas
  • Laurence Périn
  • Yves Le Bouc
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0277 PMID:30759961
No Associations Between Serum Lipid Levels or HOMA-IR and Asthma in Children and Adolescents: a NHANES Analysis
  • Min Lu
  • Beirong Wu
  • Rong Qiao
  • Haoxiang Gu
  • Ying Din
  • Xiaoyan Dong
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0098 PMID:30759963
Glucose Metabolism Evaluated By Glycated Hemoglobin And Insulin Sensitivity Indexes In Children Treated With Recombinant Human Growth Hormone
  • M. C. Pellegrin
  • D. Michelon
  • E. Faleschini
  • C. Germani
  • E. Barbi
  • G. Tornese
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0281 PMID:30819016
Intrauterine twin discordancy followed by partial postnatal catch-up growth in a girl with a pathogenic IGF1R mutation
  • Paula Ocaranza
  • Monique Losekoot
  • Marie JE Walenkamp
  • Christiaan de Bruin
  • Jan M Wit
  • Veronica Mericq
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0236 PMID:30859796
Antimüllerian Hormone Levels Of Infants With Premature Thelarche
  • Nursel Muratoglu Sahin
  • Elvan Bayramoglu
  • Hatice Nursun Ozcan
  • Erdal Kurnaz
  • Meliksah Keskin
  • Senay Savas Erdeve
  • Semra Cetinkaya
  • Zehra Aycan
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0293 PMID:30859797
The Development of Insulin Treatment Self-Management Scale Child Form (ages 8-18) and Parent Form
  • Çağrı ÇÖVENER ÖZÇELİK
  • Eda AKTAŞ
  • Nesrin ŞEN CELASİN
  • Gülten KARAHAN OKUROĞLU
  • Şükriye ŞAHİN
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0026 PMID:30905141
Impact of Socioeconomic Characteristics on Metabolic Control in Children with Type One Diabetes in a Developing Country
  • Abeer Alassaf
  • Rasha Odeh
  • Lubna Gharaibeh
  • Sarah Ibrahim
  • Kamel Ajlouni
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0014 PMID:30991788
Novel Mutations in Obesity-Related Genes in Turkish Children with Non-Syndromic Early Onset Severe Obesity: A Multicentre Study
  • Ayşehan Akıncı
  • Doga Turkkahraman
  • Ibrahim Tekedereli
  • Leyla Özer
  • Bahri Evren
  • İbrahim Sahin
  • Tarkan Kalkan
  • Yusuf Çürek
  • Emine Çamtosun
  • Esra Doğer
  • Aysun Bideci
  • Ayla Güven
  • Erdal Eren
  • Özlem Sangün
  • Atilla Çayır
  • Pelin Bilir
  • Ayça Törel Ergür
  • Oya Ercan
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0021 PMID:30991789
Accuracy of Tri-ponderal Mass Index and Body Mass Index in Estimating Insulin Resistance, Hyperlipidemia, Impaired Liver Enzymes or Thyroid Hormone Functions and Vitamin D Level in Children and Adolescents
  • Nese Akcan
  • Ruveyde Bundak
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0279 PMID:30991791
The Study of Serum Neuron-Specific Enolase and S100 calcium-binding protein B in Pediatric Diabetic Ketoacidosis
  • Hatem Hamed Elshorbagy
  • Naglaa Fathy Barseem
  • Akram Elshafey Elsadek
  • Ashraf Hamed Al-shokary
  • Yehia Hamed Abdel Maksoud
  • Sameh Elsayed Abdulsamea
  • Iman M. Talaat
  • Hany Abdelaziz Suliman
  • Naglaa M. Kamal
  • Waleed E. Abdelghani
  • Sanaa Mohammed Azab
  • Dalia Mohamed Nour El Din
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0280 PMID:31067852
Triglyceride Glucose Index as a Surrogate Measure of Insulin Sensitivity in a Caucasian Pediatric Population
  • Valeria Calcaterra
  • Chiara Montalbano
  • Annalisa de Silvestri
  • Gloria Pelizzo
  • Corrado Regalbuto
  • Valeria Paganelli
  • Riccardo Albertini
  • Francesco Delle Cave
  • Daniela Larizza
  • Hellas Cena
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0024 PMID:31088046
Clinical and Biochemical Phenotype of Adolescent Males with Gynecomastia
  • Milosz Lorek
  • Dominika Tobolska-Lorek
  • Barbara Kalina-Faska
  • Aleksandra Januszek- Trzciakowska
  • Aneta Gawlik
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0027 PMID:31117335
Liver Biochemical Abnormalities in Adolescent Patients with Turner Syndrome
  • Małgorzata Wójcik
  • Anna Ruszała
  • Dominika Januś
  • Jerzy B. Starzyk
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0271 PMID:31117336
Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China
  • Xu A
  • Jing Cheng
  • Huiying Sheng
  • Zhe Wen
  • Yunting Lin
  • Zhihong Zhou
  • Chunhua Zeng
  • Yongxian Shao
  • Cuiling Li
  • Li Liu
  • Xiuzhen Li
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0046 PMID:31208162
The subclinical Myocardial Dysfunction in Children with Euthyroid Hashimoto's Thyroiditis Demonstrated by Speckle Tracking Echocardiography
  • Emine Azak
  • Seyit Ahmet Ucakturk
  • Ibrahim Ilker Cetin
  • Hazım Alper Gursu
  • Eda Mengen
  • Utku Pamuk
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0273

Review

Pitfalls with Vitamin D Research in Musculoskeletal Disorders and Recommendations on How to Avoid Them
  • Gary M. Kiebzak
  • Kevin M. Neal
  • Pooya Hossienzadeh
  • Robert C. Olney
  • Michael A. Levine
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0007 PMID:30759962
Syndromic Disorders Caused by Disturbed Human Imprinting
  • Diana Carli
  • Evelise Riberi
  • Giovanni Battista Ferrero
  • Alessandro Mussa
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0249 PMID:30968677
Achieving Optimal Short- and Long-Term Responses to Paediatric Growth Hormone Therapy
  • Jan M. Wit
  • Asma Deeb
  • Bassam Bin-Abbas
  • Angham Al Mutair
  • Ekaterina Koledova
  • Martin O. Savage
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0088

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