ORIGINAL ARTICLE |
1. | Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated to 46,XY Gonadal Dysgenesis Khouloud Rjiba, Wafa Slimani, Meriem Gaddas, Ikbel Hadj Hassine, Afef Jelloul, Hela Ben Khelifa, Fethi El Amri, Monia Zaouali, Kenneth Mcelreavey, Ali Saad, Soumaya Mougou-Zerelli doi: 10.4274/jcrpe.galenos.2022.2022-3-15 Page 0
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2. | Clinical Utility and Outcome Prediction of Early ZnT8-IgG Testing and Titer in Type 1 Diabetes Amanda R. Dahl, Sarah Jenkins M, Sean J Pittock, Siobhan Pittock MB doi: 10.4274/jcrpe.galenos.2022.2022-4-16 Page 0
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3. | Comparison of Commonly Used Methods to Predict the Final Height in Constitutional Tall Stature Alma Kamar Matias, Evgenia Muginshtein-Simkovitch, Gilad Twig, Lilos Pearl, Zvi Laron doi: 10.4274/jcrpe.galenos.2022.2022-1-12 Page 0
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4. | Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Juan Lasprilla-tovar, Nora Alejandra Zuluaga, Carolina Forero, Oscar Correa-Jiménez, Javier Mauricio Sierra doi: 10.4274/jcrpe.galenos.2022.2022-4-12 Page 0
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5. | Factors Affecting Thyroid Elastography in Healthy Children and Patients with Hashimoto's Thyroiditis Serkan Bilge Koca, Turgut Seber doi: 10.4274/jcrpe.galenos.2022.2022-4-5 Page 0
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6. | Factors Associated with Low Bone Mineral Density at the Time of Diagnosis in Children with Celiac Disease Emine Çamtosun, Fatma İlknur Varol, Şükrü Güngör, Mukadder Ayşe Selimoğlu doi: 10.4274/jcrpe.galenos.2022.2022-5-18 Page 0
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7. | Frequency, Clinical Characteristics and Predictors of Ketoacidosis at Diagnosis of Type One Diabetes Mellitus in Children and Adolescents from Jordan Rasha Odeh, Lobna Gharaibeh, Amirah Daher, Jumana Albaramki, Bahaa Ashour, Fatima al Barakat, Dina Dahabreh, Hiba Hadadin, Tala Melhem, Abeer Alassaf doi: 10.4274/jcrpe.galenos.2022.2022-5-8 Page 0
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8. | Increased Carotid Intima-media Thickness and Its Association with Carbohydrate Metabolism and Adipocytokines in Children Treated with Recombinant Growth Hormone Seha Saygili, Mehmet Kocaaga, Gamze Kaya, Mine Sukur, Firdevs Bas, Sukran Poyrazoglu, Ruveyde Bundak, Feyza Darendeliler doi: 10.4274/jcrpe.galenos.2022.2022-8-19 Page 0
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9. | The Importance of Extended High Frequencies in Hearing Evaluation of Pediatric Patients with Type 1 Diabetes Selis Gulseven Guven, Cigdem Binay doi: 10.4274/jcrpe.galenos.2022.2022-7-3 Page 0
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10. | The Relationship between Premature Adrenarche and Platelet Aggregation Ahmet Bolat, Cengiz ZEYBEK, Orhan GURSEL, Onur Akın, Mehmet Emre TAŞÇILAR doi: 10.4274/jcrpe.galenos.2022.2022-6-13 Page 0
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11. | 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 doi: jcrpe-2019-0024.R2 Page 0
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12. | Chronic Disease Management of Children Followed with Type 1 Diabetes Mellitus Senay Guven Baysal, Nurdan Ciftci, Ismail Dundar, Mehmet Akif Buyukavcı, Fatma Hilal Yagin, Emine Camtosun, Derya Gumuş Dogan, Aysehan Akinci doi: 10.4274/jcrpe.galenos.2023.2022-8-4 Page 0
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13. | Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism Nurdan Çiftci, Ayşehan Akıncı, Ekrem Akbulut, Emine Çamtosun, İsmail Dündar, Mustafa Doğan, Leman Kayaş doi: 10.4274/jcrpe.galenos.2023.2022-10-14 Page 0
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14. | Comparison of Makorin Ring Finger Protein 3 Levels Between Obese and Normal Weight Patients with Central Precocious Puberty Sumeyye Emel Eren, Enver Simsek doi: 10.4274/jcrpe.galenos.2023.2022-6-6 Page 0
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15. | Decline in the Age of Menarche in İstanbul Schoolgirls Over the Last 12 Years Tulay Guran, Didem Helvacioglu, Busra Gurpinar Tosun, Zehra Yavas Abali, Fahriye Alir, Yusuf Taha Arslan, Giasim Molla, Berk Sahin, Mehmet Emir Sayar, Zeynep Atay, Belma Haliloglu, Korcan Demir, Serap Turan, Seyhan Hidiroglu, Abdullah Bereket doi: 10.4274/jcrpe.galenos.2023.2022-11-16 Page 0
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16. | Evaluation of The Effects of Carob (Ceratonia Siliqua L.) Fruits on the Puberty of Rats Aylin Kılınç Uğurlu, Aysun Bideci, Elvan Anadol, İpek Süntar, Gülnur Take Kaplanoğlu, Özlem Gülbahar, Zeynep Şafak Teksin, Duygu Dayanır, Tuba Saadet Deveci Bulut, Canan Uluoğlu, M. Orhun Çamurdan doi: 10.4274/jcrpe.galenos.2022.2022-7-5 Page 0
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17. | Novel Modified Algorithm for High Fat/High Energy Density Meal in Type 1 Diabetes: Less Hypoglycemia Yasemin Atik Altınok, Günay Demir, Hafize Çetin, Samim Özen, Şükran Darcan, Damla Gökşen doi: 10.4274/jcrpe.galenos.2022.2022-8-10 Page 0
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REVIEW |
18. | Frequently Asked Questions and Evidence-Based Answers on Medical Nutritional Therapy in Children with Type 1 Diabetes for Health Care Professionals Beyza ELİUZ TİPİCİ, Yasemin ATİK ALTINOK, Alev KESER doi: 10.4274/jcrpe.galenos.2022.2022-6-4 Page 0
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19. | Specific Functions of Melanocortin 3 Receptor (MC3R) Tülin Yanık, Seyda Tuğçe Durhan doi: 10.4274/jcrpe.galenos.2022.2022-5-21 Page 0
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CASE REPORT |
20. | A Case of Diabetes Mellitus Type MODY5 as a feature of 17q12 Deletion Syndrome Hümeyra Yaşar Köstek, Fatma Özgüç Çömlek, Hakan Gürkan, Emine Neşe Özkayın, Filiz Tütüncüler Kökenli doi: 10.4274/jcrpe.galenos.2022.2022-3-2 Page 0
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21. | A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey Elif Söbü, Gül Demet Kaya Özçora, Elif Yılmaz Güleç, Bahtiyar Şahinoğlu, Feride Tahmiscioğlu Bucak doi: 10.4274/jcrpe.galenos.2022.2022-8-12 Page 0
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22. | A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report Si Qin, Yindi Zhang, Fadong Yu, Yinxing Ni, Jian Zhong doi: 10.4274/jcrpe.galenos.2022.2021-12-24 Page 0
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23. | A Novel KISS1R Loss-of-Function Variant in a Chinese Child with Congenital Hypogonadotropic Hypogonadism Peng Zhou, Jin Wu doi: 10.4274/jcrpe.galenos.2022.2022-3-18 Page 0
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24. | A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care Aslı Derya Kardelen, Esin Karakılıç Özturan, Şükran Poyrazoğlu, Firdevs Baş, Serdar Ceylaner, Sjoerd D Joustra, Jan M Wit, Feyza Darendeliler doi: 10.4274/jcrpe.galenos.2022.2021-12-3 Page 0
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25. | A Possibly Fatal Outcome of Oral Contraceptive Therapy: Estrogen Triggered Hereditary Angioedema Attack in An Adolescent Ugur Berkay Balkanci, Demet Demirkol, Gul Yesiltepe Mutlu, Esra Birben, Ozge Soyer, Ozlem Yilmaz, Cansin Sackesen doi: 10.4274/jcrpe.galenos.2021.2021.0053 Page 0
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26. | An Alternative Route of Treatment in Transient Hypothyroxinemia of Prematurity: Rectal Administration of Levothyroxine Duygu Tunçel, Zeynep İnce, Erhan Aygün, Asuman Çoban doi: 10.4274/jcrpe.galenos.2021.2021.0153 Page 0
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27. | Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny- Caffey Syndrome Type 2 Erdal Eren, Havva Tezcan Unlu, Serdar Ceylaner, Omer Tarim doi: 10.4274/jcrpe.galenos.2021.2020.0315 Page 0
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28. | Congenital Hyperinsulinism and Maple Syrup Urine Disease A Challenging Combination Azza Al Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli, Hilal Al Mandhari, Saif Al Yaarubi, Irfan Ullah, Nadia Al- Hashmi, Fathiya Al Murshedi doi: 10.4274/jcrpe.galenos.2021.2021.0173 Page 0
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29. | Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report Takahide Kokumai, Shigeru Suzuki, Noriko Nishikawa, Hinako Yamamura, Tokuo Mukai, Yusuke Tanahashi, Satoru Takahashi doi: 10.4274/jcrpe.galenos.2022.2022-4-11 Page 0
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30. | Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome Ángela Ascaso, Ana Latorre-pellicer, Beatriz Puisac, Laura Trujillano, María Arnedo, Ilaria Parenti, Elena Llorente, Juan José Puente-lanzarote, Ángel Matute-llorente, Ariadna Ayerza-casas, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié, Gloria Bueno-lozano doi: 10.4274/jcrpe.galenos.2022.2022-4-14 Page 0
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31. | Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases Zeynep Şıklar, Tuğba Kontbay, Kevin Colclough, Kashyap A Patel, Merih Berberoğlu doi: 10.4274/jcrpe.galenos.2021.2021.0110 Page 0
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32. | Gastroparesis in Adolescent Patient with Type 1 Diabetes: Severe Presentation of a Rare Pediatric Complication Fortunato Lombardo, Bruno Bombaci, Stefano Costa, Mariella Valenzise, Nino Giannitto, Davide Cardile, Sergio Baldari, Giuseppina Salzano, Stefano Passanisi doi: 10.4274/jcrpe.galenos.2022.2022-5-20 Page 0
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33. | Hemolytic Anemia due to Glucose 6 Phosphate Dehydrogenase Deficiency Triggered by Type 1 Diabetes Mellitus Burçe Orman, Semra Çetinkaya, Nergiz Öner, Meltem Akçaboy, Ali Fettah, Naz Güleray Lafcı, Şenay Savaş Erdeve doi: 10.4274/jcrpe.galenos.2021.2021-11-10 Page 0
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34. | Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency Mark R. Garrelfs, Tuula Rinne, Jacquelien J. Hillebrand, Peter Lauffer, Merijn W. Bijlsma, Hedi L. Claahsen-van Der Grinten, Nicole De Leeuw, Martijn J.J. Finken, Joost Rotteveel, Nitash Zwaveling-soonawala, Max Nieuwdorp, A.S. Paul van Trotsenburg, Christiaan F. Mooij doi: 10.4274/jcrpe.galenos.2022.2022-3-4 Page 0
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35. | Juvenile Granulosa Cell Tumor Mimicking HAIR-AN in a 4-Year-Old: A Case Report Rachel Choe Kim, Iliya Goldberg, Trevor Van Brunt, Hamama Tul-Bushra, Rebecca Batiste, Andrew H. Lane, Helen Hsieh doi: 10.4274/jcrpe.galenos.2022.2022-4-17 Page 0
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36. | Liraglutide Treatment Experience in Morbid Obese Adolescent with a MC4R Gene Variant: Side Effects Reduce Success Emine Çamtosun, Ayşehan Akıncı, Leman Kayaş, Nurdan Çiftçi, İbrahim Tekedereli doi: 10.4274/jcrpe.galenos.2021.2021.0158 Page 0
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37. | Long Term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism Nur Berna Celik, Monique Losekoot, Emregül Isık, E. Nazlı Gonc, Ayfer Alikasifoglu, Nurgün Kandemir, Z. Alev Ozon doi: 10.4274/jcrpe.galenos.2022.2022-8-1 Page 0
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38. | Long-term Survival in a Child with Malignant Insulinoma After Liver Transplantation Elzbieta Moszczynska, Arnika Wydra, Klaudia Zasada, Marta Bazsynka-wilk, Dorota Majak, Anna Sliwinska, Wieslawa Grajkowska doi: 10.4274/jcrpe.galenos.2022.2022-3-5 Page 0
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39. | Maltodextrin May Be a Promising Treatment Modality After Near-total Pancreatectomy in Infants Younger Than Six Months with Persistent Hyperinsulinism: A Case Report Yasemin Denkboy Ongen, Erdal Eren, Halil Saglam doi: 10.4274/jcrpe.galenos.2021.2021.0121 Page 0
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40. | Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene; The First-year Results Şervan Özalkak, Meliha Demiral, Edip Ünal, Funda Feryal Taş, Hüseyin Onay, Hüseyin Demirbilek, Mehmet Nuri Özbek doi: 10.4274/jcrpe.galenos.2022.2022-1-25 Page 0
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41. | Mitotically Active Follicular Nodule in Early Childhood: A Case Report with A Novel Mutation in the Thyroglobulin Gene Sirmen Kizilcan Cetin, Zehra Aycan, Zeynep Siklar, Serpil Dizbay Sak, Serdar Ceylaner, Elif Ozsu, Merih Berberoglu doi: 10.4274/jcrpe.galenos.2022.2022-8-20 Page 0
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42. | Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation Emre Sarıkaya, Mustafa Kendirci, Mikail Demir, Munis Dündar doi: 10.4274/jcrpe.galenos.2022.2021-12-19 Page 0
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43. | Nephrogenic Syndrome of Inappropriate Antidiuresis Mimicking Hyporeninemic Hypoaldosteronism: Case Report of Two Infants Jamala Mammadova, Cengiz Kara, Eda Çelebi Bitkin, Elif İzci Güllü, Murat Aydın doi: 10.4274/jcrpe.galenos.2021.2021.0191 Page 0
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44. | Non-hormonal Clitoromegaly due to Clitoral Priapism Caused by Appendicitis/Appendectomy Busra Gurpinar Tosun, Ahsen Karagozlu Akgul, Eda Almus, Sadik Abidoglu, Serap Turan, Abdullah Bereket, Tulay Guran doi: 10.4274/jcrpe.galenos.2021.2021-8-4 Page 0
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45. | Novel Homozygous Nonsense Mutation in LRP5 Gene in Two Siblings with Osteoporosispseudoglioma Syndrome Abolfazl Heidari, Ali Homaei, Fatemeh Saffari doi: 10.4274/jcrpe.galenos.2021.2021.0186 Page 0
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46. | Painless Footdrop in a Child with Newly Diagnosed Type 1 Diabetes Mellitus: Case Report Maryam Jafari, Ahmedyar Hasan, Jessie Joseph, Manal Mustafa, Samar AlMuntaser doi: 10.4274/jcrpe.galenos.2022.2022-6-22 Page 0
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47. | Primary Thyroid Diffuse Large B-cell Lymphoma in a Child with Hashimoto’s Thyroiditis: A Case Report Maria Xatzipsalti, Evangelos Bourousis, Maria Nikita, Dimitra Rontogianni, Myrsini. G. Gkeli, Dionisios Chrysis, Aristeidis Giannakopoulos, Dimitrios Delis, Margarita Baka, Andriani Vazeou doi: 10.4274/jcrpe.galenos.2021.2021.0140 Page 0
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48. | Prolyl Endopeptidase-like (PREPL) Deficiency Associated with Growth Hormone Deficiency: Case Report Laura Sayol-torres, Maria Irene Valenzuela, Rosangela Tomasini, Paula Fernández-alvarez, Maria Clemente, Diego Yeste doi: 10.4274/jcrpe.galenos.2021.2021.0128 Page 0
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49. | Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review Isabel Inácio, Joana Serra-caetano, Rita Cardoso, Isabel Dinis, Alice Mirante doi: 10.4274/jcrpe.galenos.2021.2021.0174 Page 0
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50. | Stress Induced Hyperglycemia in Early Childhood as a Clue for the Diagnosis of NEUROD1-MODY Nur Berna Celik, Naz Güleray Lafcı, Senay Savas-Erdeve, Semra Cetinkaya doi: 10.4274/jcrpe.galenos.2022.2022-6-15 Page 0
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51. | Successful Management of Severe Hypercalcemia with Zoledronic Acid: A Report of Two Pediatric Cases Fatih Kilci, Jeremy Huw Jones, Filiz Mine Çizmecioğlu-jones doi: 10.4274/jcrpe.galenos.2022.2022-9-3 Page 0
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52. | Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation Aleksandra Rojek, Beata Wikiera, Anna Noczynska, Marek Niedziela doi: 10.4274/jcrpe.galenos.2021.2021.0256 Page 0
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53. | Tumor - Induced Osteomalacia Associated with a Maxillary Tumor in Children: A Case Report and Review of the Literature Ha Nguyen Thi, Cuong Pham Manh, Linh To Tuan, Lan Anh Le Thi, Nam Nguyen Thanh, Soamarat Vilaiyuk doi: 10.4274/jcrpe.galenos.2022.2021-8-14 Page 0
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54. | Unfavorbale Effects of Low-Carbonhydrate Diet In a Pediatric Patient With Type 1 Diabetes Mellitus Ceren Güleryüz, Ece Eker, Gülin Karacan Küçükali, Merve Şakar, Fatma Nur Genç, Nursel Muratoğlu Şahin, Selin Elmaoğulları, Semra Çetinkaya, Şenay Savaş Erdeve doi: 10.4274/jcrpe.galenos.2021.2021-10-18 Page 0
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55. | Vasculitis-like Palpable Purpuric Rush Induced by Decapeptyl in a Pediatric Patient Diagnosed Central Precocious Puberty: A Pediatric Case Nilufer Galip, Nermin Ankay, Ruveyde Bundak doi: 10.4274/jcrpe.galenos.2021.2021.0205 Page 0
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56. | Weight Loss during Topiramate Treatment in a Severely Obese Adolescent with Congenital Adrenal Hyperplasia and Migraine Amy Seagroves, Heather M. Ross, Alaina P. Vidmar, Mitchell E. Geffner, William S. Kim, Darryl Hwang, Claudia Borzutzky, Nicole R. Fraga, Mimi S. Kim doi: 10.4274/jcrpe.galenos.2021.2020.0310 Page 0
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57. | A Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome – a Case Report N. Yordanova, V. Iotova, D. J. G. Mackay, I. K. Temple, S. Stoyanova, M. Hachmeriyan doi: 10.4274/jcrpe.galenos.2022.2022-9-19 Page 0
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58. | Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl Merve Yoldas Celik, Ebru Canda, Havva Yazici, Fehime Erdem, Ayse Yuksel Yanbolu, Ayca Aykut, Asude Durmaz, Ahmet Anik, Sema Kalkan Ucar, Mahmut Coker doi: 10.4274/jcrpe.galenos.2022.2022-2022-9-12 Page 0
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59. | Severe Growth Hormone Deficiency in an Indian Boy Caused By a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene Basma Haris, Idris Mohammed, Umm-kulthum Ismail Umlai, Diksha Shirodkar, Khalid Hussain doi: 10.4274/jcrpe.galenos.2022.2022-5-9 Page 0
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