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European Journal of Pediatrics, ISSN 0340-6199, 02/2016, Volume 175, Issue 2, pp. 261 - 272
To avoid potentially severe outcomes, phenylketonuria (PKU) must be detected as soon as possible after birth and managed with life-long treatment. A... 
ADULT PATIENTS | Phenylketonuria | Questionnaire | NEWBORN | BEHAVIOR | PHENYLALANINE-RESTRICTED DIET | STATE | Management | CARE | Screening | Survey | Tetrahydrobiopterin | UNTREATED PHENYLKETONURIA | Diagnosis | PKU | Sapropterin dihydrochloride | Pediatrics | Medicine & Public Health | PEDIATRICS | Surveys | Management techniques | Phenylalanine | Life Sciences | Original
Journal Article
Heat Transfer Engineering, ISSN 0145-7632, 10/2019, pp. 1 - 11
Journal Article
Repetitive EEG recordings are necessary for the diagnosis of early myoclonic encephalopathy, 12/2005
Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, time of onset before 3... 
Early myoclonic encephalopathy, suppression-burst, EEG, non-ketotic hyperglycinemia
Journal
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 6/2011, Volume 34, Issue 3, pp. 561 - 562
Journal Article
Sustainable Cities and Society, ISSN 2210-6707, 04/2017, Volume 30, pp. 66 - 78
Conservation of library collections requires an interdisciplinary approach. Dealing with the agents of deterioration via curative and preventive conservation... 
Degradation | Preventive conservation | Historic library | Risk assessment | Manuscripts | Indoor climate | GREEN & SUSTAINABLE SCIENCE & TECHNOLOGY | METHODOLOGY | HERITAGE BUILDINGS | CONSTRUCTION & BUILDING TECHNOLOGY | ENERGY & FUELS | MUSEUM | Governmental libraries | Protection and preservation | Environmental aspects | Libraries
Journal Article
Pediatric Neurology, ISSN 0887-8994, 10/2019, Volume 99, pp. 69 - 75
Multiple acyl-CoA dehydrogenase (MADD) deficiency, which is a rare metabolic disorder involving electron transport flavoproteins, has a wide array of clinical... 
Multiple acyl-CoA dehydrogenase deficiency | Riboflavin | Glutaric aciduria type 2 | Lipid storage myopathy | Electron transport flavoprotein | TRANSPORT | ELECTRON-TRANSFER FLAVOPROTEIN | PEDIATRICS | COHORT | MUTATIONS | CLINICAL NEUROLOGY | Pediatric neurology | Analysis | Chronic fatigue syndrome
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 2954 - 2967
Journal Article
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, ISSN 0334-018X, 10/2019, Volume 32, Issue 10, pp. 1049 - 1053
Background: This study aimed to determine cardiac findings in patients with mucopolysaccharidosis (MPS) and to assess the changes in these findings after... 
CARDIOVASCULAR CHANGES | DIAGNOSIS | enzyme replacement therapy | VI | left ventricular hypertrophy | DISEASE | ENDOCRINOLOGY & METABOLISM | mucopolysaccharidosis | PEDIATRICS | cardiac findings | EXPERIENCE | FEATURES
Journal Article
Journal Article
Journal of Developmental & Behavioral Pediatrics, ISSN 0196-206X, 10/2019, p. 1
Journal Article
Cocuk Sagligi ve Hastaliklari Dergisi, ISSN 0010-0161, 2011, Volume 54, Issue 3, pp. 164 - 181
Journal Article
Nephron, ISSN 1660-8151, 07/2019, Volume 142, Issue 3, pp. 258 - 263
The most common disorder of vitamin B12 metabolism is methylmalonic aciduria and homocystinuria type cobalamin C (cblC), which accounts for most of the cases... 
Dehydrogenases | Urinalysis | Blood tests | Aciduria | Infants | Vitamin B12 | Genetic screening | Defects | Convulsions & seizures | Homocystinuria | Hemolytic anemia | Betaine | Hemoglobin | Bone marrow | Age | Urine | Hypertension | Thrombocytopenia | Ventilators | Folinic acid | Nutrient deficiency | Kidneys | Hemolytic uremic syndrome | Leukopenia | Hydration | Anemia | Methionine | Diarrhea | Metabolism | Patients | Citric acid | Carnitine | Acids | Birth weight | Mutation | Homocysteine
Journal Article
by Ediboğlu, Özlem and Moçin, Özlem Yazıcıoğlu and Özyılmaz, Ezgi and Saltürk, Cüneyt and Önalan, Tuğba and Seydaoğlu, Gülşah and Çelikel, Turgay and Arıkan, Hüseyin and Ataman, Sena and Kıraklı, Cenk and Özçelik, Zerrin and Kultufan, Sema and Kara, İskender and Kara, Atilla and Dağlı, Emine and Bülbül, Selma Duru and Kahveci, Kadriye and Dinçer, Metin and Şenoğlu, Nimet and Özkarakaş, Hüseyin and Bahar, İlhan and Cengiz, Melike and Ramazanoğlu, Atilla and Çelik, Burcu and Gaygısız, Ümmügülsün and Kır, Gülay and Bindal, Ahmet and Akan, Belgin and Turan, Işıl Özkoçak and Yıldırım, Fatma and Başarık, Burcu and Ulukan, Zeliha Arslan and Efe, Serdar and Sungur, Murat and Temel, Şahin and İzdeş, Seval and Hoşgün, Derya and Karadeniz, Nurhan and Tuncay, Eylem and Gökşenoğlu, Nezihe Çiftarslan and Irmak, İlim and Datlı, Utku and Zerman, Avşar and Akdağ, Devrim and Özdemir, Levent and Elay, Gülseren and Karaçayır, Yücel and Topeli, Arzu and Hancı, Pervin and Kaya, Esat Kıvanç and Güven, Pınar and Sazak, Hilal and Aydemir, Semih and Aygencel, Gülbin and Aydemir, Yusuf and Doğanay, Zahide and Kömürcü, Özgür and Hancı, Volkan and Karakoç, Emre and Sözütek, Didem and Coşkun, Güven and Ateş, Güngör and Tiryaki, Civan and Soytürk, Ayşe Nur and Girgin, Nermin Kelebek and Çalışkan, Gülbahar and Bıyıklı, Oben and Gökmen, Necati and Koca, Uğur and Çiledağ, Aydın and Süner, Kezban Özmen and Cinel, İsmail and Arslantaş, Mustafa Kemal and Gül, Fethi and Ergün, Recai and Yılmaz, Nafiye and Altıntaş, Defne and Talan, Leyla and Yalçınsoy, Murat and Güllü, Mehmet Nezir and Özcan, Perihan Ergin and Orhun, Günseli and Savran, Yusuf and Tokur, Murat Emre and Akpınar, Serdar and Şen, Pelin and Gürsel, Gül and Şerifoğlu, İrem and Gedik, Ender and Balbay, Öner Abidin and Akbaş, Türkay and Cesur, Sinem and Yolacan, Hülya and Sağmen, Seda Beyhan and Ekren, Pervin Korkmaz and Bacakoğlu, Feza and Ergan, Begüm and Günay, Ersin and Sarıaydın, Muzaffer and Sağlam, Dursun Ali and ...
Turkish Thoracic Journal, ISSN 2148-7197, 10/2018, Volume 19, Issue 4, pp. 209 - 215
We aimed to obtain information about the characteristics of the ICUs in our country via a point prevalence study. This cross-sectional study was planned by the... 
Survey | Intensive care unit | Point prevalence | survey | Original | point prevalence
Journal Article