A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency BK Burton, M Balwani, F Feillet, I Barić, TA Burrow, C Camarena Grande, ... New England Journal of Medicine 373 (11), 1010-1020, 2015 | 283 | 2015 |
Clinical course of sly syndrome (mucopolysaccharidosis type VII) AM Montaño, N Lock-Hock, RD Steiner, BH Graham, M Szlago, ... Journal of medical genetics 53 (6), 403-418, 2016 | 186 | 2016 |
The effect of childhood obesity on respiratory function tests and airway hyperresponsiveness Z Ulger, E Demir, R Tanaç, D Gökşen, F Gülen, S Darcan, D Can, ... The Turkish journal of pediatrics 48 (1), 43-50, 2006 | 167 | 2006 |
Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype B Chong, M Hegde, M Fawkner, S Simonet, H Cassinelli, M Coker, ... Journal of Bone and Mineral Research 18 (12), 2095-2104, 2003 | 140 | 2003 |
An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study ME Steenweg, C Jakobs, A Errami, SJM van Dooren, ... Human mutation 31 (4), 380-390, 2010 | 136 | 2010 |
Bone mineral density of healthy Turkish children and adolescents D Goksen, S Darcan, M Coker, T Kose Journal of Clinical Densitometry 9 (1), 84-90, 2006 | 122 | 2006 |
Endocrine Complications in Patients with β‐thalassemia Major Y Aydinok, S Darcan, A Polat, K Kavakli, G Nişli, M Çoker, M Kantar, ... Journal of tropical pediatrics 48 (1), 50-54, 2002 | 121 | 2002 |
Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey CJ Hendriksz, C Lavery, M Coker, SK Ucar, M Jain, L Bell, C Lampe Orphanet Journal of Rare Diseases 9, 1-8, 2014 | 104 | 2014 |
The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation J Schreml, B Durmaz, O Cogulu, K Keupp, F Beleggia, E Pohl, E Milz, ... Human genetics 133, 29-39, 2014 | 83 | 2014 |
Biotinidase deficiency: prevalence, impact and management strategies E Canda, S Kalkan Uçar, M Çoker Pediatric health, medicine and therapeutics, 127-133, 2020 | 75 | 2020 |
Alterations of blood pressure in type 1 diabetic children and adolescents S Darcan, D Goksen, S Mir, E Serdaroglu, M Buyukinan, M Coker, ... Pediatric Nephrology 21, 672-676, 2006 | 72 | 2006 |
Maternal and fetal serum insulin-like growth factor-I (IGF-I), IGF binding protein-3 (IGFBP-3), leptin levels and early postnatal growth in infants born asymmetrically small … Z Orbak, Ş Darcan, M Çoker, D Gökşen Journal of Pediatric Endocrinology and Metabolism 14 (8), 1119-1128, 2001 | 69 | 2001 |
The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a case report AR Alpöz, M Çoker, E Çelen, NK Ersin, D Gökçen, OP van Diggelenc, ... Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and …, 2006 | 67 | 2006 |
Inhalation therapy with magnesium sulfate and salbutamol sulfate in bronchial asthma. A Meral, M Coker, R Tanac The Turkish journal of pediatrics 38 (2), 169-175, 1996 | 66 | 1996 |
What do people with epilepsy know about their condition? Evaluation of a subspecialty clinic population MF Coker, S Bhargava, M Fitzgerald, CP Doherty Seizure 20 (1), 55-59, 2011 | 60 | 2011 |
Usefulness of the myocardial performance index (MPI) for assessing ventricular function in obese pediatric patients E Levent, D Gökşen, AR Ozyürek, S Darcan, M Çoker The Turkish journal of pediatrics 47 (1), 34-38, 2005 | 57 | 2005 |
Low density lipoprotein apheresis in pediatric patients with homozygous familial hypercholesterolemia M Coker, SK Ucar, DG Simsek, S Darcan, M Bak, S Can Therapeutic Apheresis and Dialysis 13 (2), 121-128, 2009 | 51 | 2009 |
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study V Valayannopoulos, J Baruteau, MB Delgado, A Cano, ML Couce, ... Orphanet journal of rare diseases 11, 1-11, 2016 | 49 | 2016 |
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: clinical presentation and outcome in a series of 37 patients SC Grünert, SM Schlatter, RN Schmitt, C Gemperle-Britschgi, L Mrázová, ... Molecular genetics and metabolism 121 (3), 206-215, 2017 | 47 | 2017 |
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome SB Wortmann, PM Van Hasselt, I Barić, A Burlina, N Darin, F Hörster, ... Neuropediatrics 46 (02), 098-103, 2015 | 46 | 2015 |