نتائج البحث - "TOKATLI, AYŞEGÜL"

1

Academic Journal

Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

الاتاحة: https://doi.org/10.3390/nu16132064
https://avesis.hacettepe.edu.tr/publication/details/0b836f4e-ffb2-4ac3-88c9-95403e695d75/oai

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2

Academic Journal

Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe ; The Impact of Age and Phenylketonuria Severity

المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), Centro de Investigação em Tecnologias e Serviços de Saúde (CINTESIS), Comprehensive Health Research Centre (CHRC) - pólo NMS

مصطلحات موضوعية: natural protein intake, phenylalanine intake, phenylketonuria, protein equivalent from protein substitute intake, total protein intake, Food Science, Nutrition and Dietetics

Relation: PURE: 99898799; Scopus: 85204105610; PubMed: 39275225; http://hdl.handle.net/10362/172743; https://doi.org/10.3390/nu16172909

الاتاحة: http://hdl.handle.net/10362/172743
https://doi.org/10.3390/nu16172909

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3

Academic Journal

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients.

المؤلفون: Yıldız, YILMAZ, Tokatlı, AYŞEGÜL, Sivri, Hatice Serap, Dursun, Ali, Coşkun, Turgay, Erdal, İzzet, Kahraman, Ayça Burcu, Çıkı, Kısmet, Güvenkaya, Gökhan, Akar, Halil Tuna

الاتاحة: https://doi.org/10.4274/balkanmedj.galenos.2022.2022-3-75
https://avesis.hacettepe.edu.tr/publication/details/a6439f13-e9eb-4dc6-8298-8ace5dcd5708/oai

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4

Academic Journal

Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases

المؤلفون: YILDIZ, YILMAZ, AKAR, HALİL TUNA, KAHRAMAN, AYÇA BURCU, Tokatli, Ayseguel, Lafci, Naz Guleray

الاتاحة: https://doi.org/10.1159/000519256
https://avesis.hacettepe.edu.tr/publication/details/8fa9e199-bf9f-4874-832f-82623d82e3a4/oai

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5

Academic Journal

Hyperinsulinism may be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency.

المؤلفون: Tokatlı, AYŞEGÜL, Yildiz, YILMAZ, Alikasifoglu, Ayfer, Sivri, H Serap, Gonc, Nazli, Dursun, Ali, Ozon, Alev, Vuralli, Dogus

الاتاحة: https://doi.org/10.4274/jcrpe.galenos.2021.2021-10-14
https://avesis.hacettepe.edu.tr/publication/details/3b4545e1-5595-4e41-9be2-b1500e175f4a/oai

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6

Academic Journal

High prevalence of low bone mineral density in young adults with phenylketonuria

المؤلفون: Çıkı, Kısmet, Kahraman, Ayça Burcu, Akar, Halil Tuna, Yıldız, Yılmaz, Dursun, Ali, Tokatlı, Ayşegül, Coşkun, Turgay, Sivri, Serap

المصدر: Postgraduate Medicine ; volume 137, issue 1, page 86-92 ; ISSN 0032-5481 1941-9260

الاتاحة: https://doi.org/10.1080/00325481.2024.2444873
https://www.tandfonline.com/doi/pdf/10.1080/00325481.2024.2444873

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7

Academic Journal

Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey

المؤلفون: Ersak, Ayşe Şenol, Çak, Halime Tuna, Yıldız, Yılmaz, Çavdar, Merve Kaşıkcı, Tunç, Sıla, Özer, Nagihan, Zeltner, Nina A, Huemer, Martina, Tokatlı, Ayşegül, Haliloğlu, Göknur

المصدر: Ersak, Ayşe Şenol; Çak, Halime Tuna; Yıldız, Yılmaz; Çavdar, Merve Kaşıkcı; Tunç, Sıla; Özer, Nagihan; Zeltner, Nina A; Huemer, Martina; Tokatlı, Ayşegül; Haliloğlu, Göknur (2024). Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey. Molecular Genetics and Metabolism, 141(1):108117.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, Endocrinology, Genetics, Molecular Biology, Biochemistry, Diabetes and Metabolism

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/251722/1/Ersak_Turkish_MetabQol_2023.pdf; info:pmid/38134582; urn:issn:1096-7192

الاتاحة: https://www.zora.uzh.ch/id/eprint/251722/
https://www.zora.uzh.ch/id/eprint/251722/1/Ersak_Turkish_MetabQol_2023.pdf
https://doi.org/10.1016/j.ymgme.2023.108117

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8

Academic Journal

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency

المؤلفون: Haliloğlu, Göknur, TOKATLI, AYŞEGÜL, Coşkun, Turgay, Topçu, Meral, YALNIZOĞLU, DİLEK, GÖÇMEN, RAHŞAN, Ardıçlı, Didem, YILDIZ, YILMAZ

الاتاحة: https://doi.org/10.1016/j.ejpn.2024.02.006
https://avesis.hacettepe.edu.tr/publication/details/a2ddae8f-f386-4a4b-a026-b2525f96e698/oai

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9

Academic Journal

COVID-19-related anxiety in phenylketonuria patients

المؤلفون: Yıldız, YILMAZ, Tokatlı, AYŞEGÜL, Sivri, H Serap, Dursun, Ali, Coşkun, Turgay, Erdal, İzzet, Kahraman, Ayça Burcu, Çıkı, Kısmet, Karaboncuk, Yamaç, Akar, Halil Tuna

الاتاحة: https://doi.org/10.24953/turkjped.2021.05.007
https://avesis.hacettepe.edu.tr/publication/details/d2429515-200b-4196-834f-e207c42010a5/oai

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10

Academic Journal

Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy

المؤلفون: TOKATLI, AYŞEGÜL, DURSUN, ALİ, COŞKUN, TURGAY, AYKAN, HAYRETTİN HAKAN, KARAGÖZ, TEVFİK, ÇIKI, KISMET, BİLGİNER GÜRBÜZ, BERRAK, Sivri, Serap

الاتاحة: https://doi.org/10.17826/cumj.984072
https://avesis.hacettepe.edu.tr/publication/details/d1cfdf35-ba5d-4baa-ac47-7246429a324e/oai

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11

Academic Journal

Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

المؤلفون: TOKATLI, AYŞEGÜL, COŞKUN, TURGAY, SİVRİ, HATİCE SERAP, DURSUN, ALİ, KOŞUKCU, CAN, ÖZGÜL, RIZA KÖKSAL, YÜCEL YILMAZ, DİDEM, BİLGİNER GÜRBÜZ, BERRAK

الاتاحة: https://doi.org/10.24953/turkjped.2021.04.017
https://avesis.hacettepe.edu.tr/publication/details/b4afbb4f-6289-48bb-a1a4-3c43c11e15ec/oai

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12

Academic Journal

Invisible burden of COVID-19: enzyme replacement therapy disruptions

المؤلفون: Yıldız, YILMAZ, Tokatlı, AYŞEGÜL, Sivri, Hatice Serap, Dursun, Ali, Kahraman, Ayça Burcu, Erdal, İzzet, Çıkı, Kısmet, Akar, Halil Tuna

الاتاحة: https://doi.org/10.1515/jpem-2021-0067
https://avesis.hacettepe.edu.tr/publication/details/300bffa2-0e23-4b2b-a6c8-8b8dec779db4/oai

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13

Academic Journal

Evaluation of Cardiac Findings in Mucopolysaccharidosis Type III Patients

المؤلفون: AYPAR, EBRU, SİVRİ, HATİCE SERAP, DURSUN, ALİ, COŞKUN, TURGAY, ALEHAN, DURSUN, TOKATLI, AYŞEGÜL, BİLGİNER GÜRBÜZ, BERRAK

الاتاحة: https://doi.org/10.4274/jpr.galenos.2021.65768
https://avesis.hacettepe.edu.tr/publication/details/21994492-adb1-4a87-8a9f-af180ba675d0/oai

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14

Academic Journal

Oral health status of children and young adults with maple syrup urine disease in Turkey

المؤلفون: Ballikaya, Elif, Yildiz, Yılmaz, Koç, Nagihan, Tokatli, Ayşegül, Uzamis Tekcicek, Meryem, Sivri, Hatice Serap

المصدر: BMC Oral Health ; volume 21, issue 1 ; ISSN 1472-6831

الاتاحة: http://dx.doi.org/10.1186/s12903-020-01376-0
http://link.springer.com/content/pdf/10.1186/s12903-020-01376-0.pdf
http://link.springer.com/article/10.1186/s12903-020-01376-0/fulltext.html

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15

Academic Journal

Erratum to ‘Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency’ [Pediatric Neurology 99 (2019) 69–75]

المؤلفون: Yıldız, Yılmaz, Talim, Beril, Haliloglu, Goknur, Topaloglu, Haluk, Akçören, Zuhal, Dursun, Ali, Sivri, Hatice Serap, Coşkun, Turgay, Tokatlı, Ayşegül

المصدر: Pediatric Neurology ; volume 103, page 91 ; ISSN 0887-8994

الاتاحة: https://doi.org/10.1016/j.pediatrneurol.2019.11.001
https://api.elsevier.com/content/article/PII:S0887899419309063?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0887899419309063?httpAccept=text/plain

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16

Academic Journal

Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe

The Impact of Age and Phenylketonuria Severity

المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), Centro de Investigação em Tecnologias e Serviços de Saúde (CINTESIS), Comprehensive Health Research Centre (CHRC) - pólo NMS, RUN

مصطلحات موضوعية: natural protein intake, phenylalanine intake, phenylketonuria, protein equivalent from protein substitute intake, total protein intake, Food Science, Nutrition and Dietetics

وصف الملف: application/pdf

Relation: 1422-8599; PURE: 99898799

الاتاحة: http://hdl.handle.net/10362/172743

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