Extracellular chaperones in lysosomal storage diseases

Authors: İnci, Aslı ^{a, b, ⁎}, Dökmeci, Serap ^b

Source: In Molecular Genetics and Metabolism May 2025 145(1)

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals

Authors: Zubarioglu, Tanyel, Kıykım, Ertuğrul, Köse, Engin, Eminoğlu, Fatma Tuba, Teke Kısa, Pelin, Balcı, Mehmet Cihan, Özer, Işıl, İnci, Aslı, Çilesiz, Kübra, Canda, Ebru, Yazıcı, Havva, Öztürk-Hişmi, Burcu, Bulut, Fatma Derya, Dorum, Sevil, Akgun, Abdurrahman, Yalçın-Çakmaklı, Gül, Kılıç-Yıldırım, Gonca, Soyuçen, Erdoğan, Akçalı, Aylin, Güneş, Dilek, Durmuş, Aslı, Gündüz, Ayşegül, Kasapkara, Çiğdem Seher, Göksoy, Emine, Akar, Halil Tuna, Ersoy, Melike, Erdöl, Şahin, Yıldız, Yılmaz, Hanağası, Haşmet Ayhan, Arslan, Nur, Aktuğlu-Zeybek, Çiğdem

Source: In Molecular Genetics and Metabolism June 2024 142(2)

Is Ultrasonography a Reliable Approach for the Evaluation of Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis?

Authors: Koç Yekedüz, Merve, Köse, Engin, İnci, Aslı, Yüksel, Merve Feyza, Doğulu, Neslihan, Şen Akova, Birsel, Yeniay Süt, Nurşah, Öncül, Ümmühan, Yildirim, Miraç, Fitoz, Suat, Teber, Serap, Tümer, Leyla, Eminoğlu, Fatma Tuba

Source: In Pediatric Neurology June 2024 155:171-176

Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study

Authors: Köse, Engin, Kasapkara, Çiğdem Seher, İnci, Aslı, Yıldız, Yılmaz, Sürücü Kara, İlknur, Kahraman, Ayça Burcu, Tümer, Leyla, Dursun, Ali, Eminoğlu, Fatma Tuba

Source: In European Journal of Medical Genetics April 2024 68

Effect of empagliflozin treatment on laboratory and clinical findings of patients with glycogen storage disease type Ib: first study from Türkiye.

Authors: Köse, Engin, Özçay, Figen, Aydın, Halil İbrahim, Kasapkara, Çiğdem Seher, İnci, Aslı, Küçükcongar Yavaş, Aynur, Tümer, Leyla, Eminoğlu, Fatma Tuba

Source: Journal of Pediatric Endocrinology & Metabolism; Apr2025, Vol. 38 Issue 4, p391-398, 8p

Investigating myelin oligodendrocyte glycoprotein antibodies in hereditary citrullinemia

Authors: Oncel, Ibrahim, Yousefi, Mohammadreza, Inci, Asli, Gulten, Zumrut Arslan, Kisa, Pelin Teke, Karaca, Meryem, Unal, Özlem, Gunduz, Mehmet, Kor, Deniz, Mungan, Neslihan Onenli, Arslan, Nur, Tumer, Leyla, Gucuyener, Kivilcim, Vural, Atay, Anlar, Banu

Source: In Medical Hypotheses March 2022 160

Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa

Authors: Olgac, Asburce, Inci, Asli, Okur, Ilyas, Biberoglu, Gürsel, Oğuz, Deniz, Ezgü, Fatih Süheyl, Kasapkara, Çigdem Seher, Aktaş, Emine, Tümer, Leyla

Source: Annals of Nutrition & Metabolism, 2020 Jan 01. 76(4), 233-241.

Access URL: https://www.jstor.org/stable/48620830

Expanded pilot newborn screening for lysosomal disorders: First results from Turkey

Authors: Okur, Ilyas ^a, Öktem, Murat R. ^a, Inci, Asli ^a, Ozbek, Mehmet N. ^b, Akgun, Abdurrahman ^c, Yildirim, Gonca Kiliç ^d, Onal, Esra E. ^a, Koc, Esin ^a, Cilesiz, Kubra ^a, Biberolu, Gürsel ^a, Ezgu, Fatih S. ^a, Tümer, Leyla ^a

Source: In Molecular Genetics and Metabolism February 2025 144(2)

New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography.

Authors: Özsaydı Aktaşoğlu, Ekin, Kılıç, Ayşe, Emecen Şanlı, Merve, İnci, Aslı, Aktaş, Emine, Akdulum, İsmail, Yaylı, Nezih, Okur, İlyas, Ezgü, Fatih Süheyl, Tümer, Leyla

Source: Journal of Pediatric Endocrinology & Metabolism; Sep2024, Vol. 37 Issue 9, p820-824, 5p

A 7-year-old boy with scurvy owing to coeliac disease.

Authors: Küçükalİ, Batuhan, Bayrak, Harun, Yıldırım, Deniz Gezgin, İnci, Aslı, Bakkaloğlu, Sevcan A., Tümer, Leyla

Source: Paediatrics & International Child Health; Aug2024, Vol. 44 Issue 2, p63-67, 5p

Subject Terms: VITAMIN C deficiency, BLOOD sedimentation, DIETARY patterns, DEFICIENCY diseases, GINGIVAL hemorrhage, SCHOENLEIN-Henoch purpura, CELIAC disease

An ultra-rare cause of severe hypotonia mimicking Pompe disease in an infant: RRM2B related mitochondrial DNA depletion syndrome with a novel mutation.

Authors: İnci, Aslı¹ aslid.inci@gmail.com, Okur, İlyas¹, Demir, Ercan², Biberoğlu, Gürsel¹, Tümer, Leyla¹, Serdaroğlu, Ayşe², Ezgü, Fatih Süheyl¹

Source: Neurology Asia. 2022, Vol. 27 Issue 1, p199-202. 4p.

Subject Terms: *GLYCOGEN storage disease type II, *MITOCHONDRIAL DNA, *INFANT diseases, *MELAS syndrome, *CREATINE kinase, *GENETIC mutation, *LEBER'S hereditary optic atrophy

PROPIONYLCARNITINE AND FREE CARNITINE ARE NEW BIOMARKERS IN THE FOLLOW-UP PERIOD OF MUCOPOLYSACCARIDOSIS TO SCREEN OXIDATIVE STRESS.

Alternate Title: MUKOPOLİSAKKARİDOZ HASTALARININ TAKİP SÜRECİNDE OKSİDATİF STRESİ TARAMADA YENİ BİYOBELİRTEÇLER, PROPİONİLKARNİTİN VE SERBEST KARNİTİN.

Authors: İNCİ, Aslı¹ aslid.inci@gmail.com, OLGAC, Asburce¹, GENÇ DERİN, Betül¹, BİBEROĞLU, Gürsel¹, OKUR, İlyas¹, EZGÜ, Fatih Süheyl¹, TÜMER, Leyla¹

Source: Medical Journal of Suleyman Demirel University. Dec2021, Vol. 28 Issue 4, p565-571. 7p.

Subject Terms: *OXIDATIVE stress, *CARNITINE, *PROPIONYLCARNITINE, *MALONDIALDEHYDE, *ENZYME replacement therapy, *ANTIOXIDANTS

Advances in Immune Tolerance Induction in Enzyme Replacement Therapy.

Authors: İnci, Aslı¹ (AUTHOR) aslid.inci@gmail.com, Ezgü, Fatih Süheyl^1,2 (AUTHOR), Tümer, Leyla¹ (AUTHOR)

Source: Pediatric Drugs. May2024, Vol. 26 Issue 3, p287-308. 22p.

Subject Terms: *ENZYME replacement therapy, *IMMUNOLOGICAL tolerance, *INBORN errors of metabolism, *ORGANELLE formation, *LYSOSOMAL storage diseases

Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy.

Authors: Kilic, Ayse, Emecen Sanli, Merve, Ozsaydı Aktasoglu, Ekin, Gokalp, Sabire, Biberoğlu, Gürsel, Inci, Aslı, Okur, Ilyas, Suheyl Ezgu, Fatih, Tumer, Leyla

Source: Journal of Pediatric Endocrinology & Metabolism; May2024, Vol. 37 Issue 5, p413-418, 6p

Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia.

Authors: Öktem, Rıdvan Murat, İnci, Aslı, Bayrak, Harun, Demir, Fevzi, Biberoğlu, Gürsel, Maviş, Murat Emrah, Gürsu, Gökçe Göksu, Yılmaz, Hazal, Okur, İlyas, Ezgü, Fatih Suheyl, Tümer, Leyla

Source: Molecular Syndromology; 2024, Vol. 15 Issue 3, p185-193, 9p

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series.

Authors: İnci, Aslı¹ (AUTHOR), Okur, İlyas¹ (AUTHOR), Tümer, Leyla¹ (AUTHOR), Biberoğlu, Gürsel¹ (AUTHOR), Öktem, Murat¹ (AUTHOR), Ezgü, Fatih¹ (AUTHOR) fezgu@gazi.edu.tr

Source: Orphanet Journal of Rare Diseases. 10/19/2021, Vol. 16 Issue 1, p1-11. 11p.

Subject Terms: *ENZYME replacement therapy, *TREATMENT effectiveness, *SYMPTOMS, *HEART valve diseases, *TELEMEDICINE, *RESPIRATORY infections

Geographic Terms: TURKEY, ANKARA (Turkey)

Epicardial adipose tissue and pericoronary fat thickness measured with 64-multidetector computed tomography: potential predictors of the severity of coronary artery disease

Authors: Demircelik, Muhammed Bora ^*, Yilmaz, Omer Caglar, Gurel, Ozgul Malcok, Selcoki, Yusuf, Atar, Inci Asli, Bozkurt, Alper, Akin, Kayihan, Eryonucu, Beyhan

Source: In Clinics June 2014 69(6):388-392

Relationship Between the Flow-Mediated Dilatation of the Human Brachial Artery and Blood Biomarkers Related to the Endothelial Function in Cardiovascular Diseases.

Authors: Usanmaz, Suzan Emel¹ usanmaz@medicine.ankara.edu.tr, Atar, İnci Aslı², Aksöyek, Ayşen³, Tola, Muharrem⁴, Kubat, Emre⁵, Altuner, Tuğba Kayhan⁶, Bozbaş, Hüseyin⁶, Sevük, Utkan⁷, Korkmaz, Mehmet Emin⁶, Yılmaz, Emine Demirel¹

Source: Erciyes Medical Journal / Erciyes Tip Dergisi. 2021, Vol. 43 Issue 1, p75-82. 8p.

Subject Terms: *BRACHIAL artery, *CARDIOVASCULAR diseases, *HEART valve diseases, *OXIDANT status, *ASYMMETRIC dimethylarginine

Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease?

Alternate Title: Steht die Aktivität der lysosomalen sauren Lipase in Zusammenhang mit dem Vorliegen und dem Schweregrad einer koronaren Herzkrankheit? (German)

Authors: Kızıltunç, Emrullah, Gökalp, Sabire, Biberoğlu, Gürsel, Yalçın, Yakup, Cihan, Burcu, Öktem, Rıdvan M, İnci, Aslı, Tümer, Leyla, Yalçın, Mehmet R, Abacı, Adnan

Source: Herz; Feb2024, Vol. 49 Issue 1, p75-80, 6p

Subject Terms: CORONARY artery disease, LIPASES, CORONARY angiography, ACUTE coronary syndrome, PRASUGREL, BLOOD lipids

Dietary Fiber Supplementation in Type I Glycogen Storage Disease; Could it Contribute to a Better Metabolic Control?

Alternate Title: Tip I Glikojen Depo Hastalığında Diyet Lifi Takviyesi; Daha İyi Bir Metabolik Kontrole Katkıda Bulunabilir Mi? (Turkish)

Authors: Şanlı, Merve Emecen, Aktaş, Emine, İnci, Aslı, Okur, İlyas, Ezgü, Fatih, Tümer, Leyla

Source: Journal of Current Pediatrics / Guncel Pediatri; Dec2023, Vol. 21 Issue 3, p228-234, 7p

Subject Terms: DIETARY fiber, GLYCOSYLATED hemoglobin, TRIGLYCERIDES, HOMEOSTASIS, BLOOD sugar monitoring, LDL cholesterol, DIETARY supplements, TREATMENT effectiveness, INBORN errors of carbohydrate metabolism, GLYCOGEN storage disease, LACTATES, URIC acid, CHOLESTEROL, EVALUATION