المؤلفون: Bulut, Fatma Derya¹ deryaozduran@yahoo.com, Seydaoğlu, Gülşah², Kor, Deniz¹, Kılavuz, Sebile³, Boz, Aslı², Önenli Mungan, Neslihan¹

المصدر: Archives de Pédiatrie. Oct2023, Vol. 30 Issue 7, p450-454. 5p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *HEALTH of adults, *CHRONIC diseases, *SOCIAL problems

مصطلحات جغرافية: TURKEY

المؤلفون: Urey, Burcu Civelek, Kasapkara, Cigdem Seher, Inci, Asli, Gunduz, Mehmet, Parlakay, Aslinur Ozkaya, Olgac, Asburce, Tumer, Leyla

المصدر: Medical Records; 2023, Vol. 5 Issue 2, p231-236, 6p

مصطلحات موضوعية: COVID-19, RETROSPECTIVE studies, ACQUISITION of data, HEALTH status indicators, COMPARATIVE studies, LYSOSOMAL storage diseases, RISK assessment, SEX distribution, DISEASE susceptibility, MEDICAL records, HOSPITAL care, DESCRIPTIVE statistics, GAUCHER'S disease, RARE diseases, DISEASE complications

مصطلحات جغرافية: TURKEY

المؤلفون: Köse, Engin¹ enginkose85@hotmail.com, Bülbül, Selda², Arslan, Nur³

المصدر: Journal of Pediatric Research. 2019, Vol. 6 Issue 4, p292-298. 7p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *PROFESSIONS, *QUESTIONNAIRES, *SURVEYS, *DESCRIPTIVE statistics

مصطلحات جغرافية: TURKEY

العنوان البديل: Pompe Tanısı Alan Hastalarımızın Klinik ve Moleküler Özellikleri: Tek Merkez Deneyimi. (Turkish)

المؤلفون: Köse, Melis, Köse, Engin, Kağnıcı, Mehtap, Ünalp, Aycan, Yılmaz, Ünsal, Yılmaz, Murat Muhtar, Meşe, Timur, Edizer, Selvinaz, Gürsoy, Semra, Onay, Hüseyin, Yıldırım, Eser Sözmen

المصدر: Medical Journal of Bakirkoy; Mar2020, Vol. 16 Issue 1, p49-55, 7p

مصطلحات موضوعية: ENZYME analysis, NEUROGENETICS, AGE factors in disease, BIOCHEMISTRY, BIOPSY, HEALTH facilities, LYSOSOMAL storage diseases, PHENOMENOLOGY, MEDICAL records, GENETIC mutation, NERVOUS system, PHENOTYPES, RETROSPECTIVE studies, ACQUISITION of data methodology, GENOTYPES, DELAYED onset of disease

مصطلحات جغرافية: TURKEY

العنوان البديل: Hurler Sendromlu Türk Olguda Yeni Bir Mutasyon: C.826_828DEL3.

المؤلفون: Ucar, Sema Kalkan¹ semakalkan@hotmail.com, Çoker, Mahmut¹ mahmut.coker@ege.edu.tr, Bertola, Francesca², Casati, Giorgio², þimşek, Damla Gökşen¹, Darcan, þükran¹ sukran.darcan@ege.edu.tr

المصدر: Erciyes Medical Journal / Erciyes Tip Dergisi. 2010, Vol. 32 Issue 1, p41-44. 4p. 1 Color Photograph, 1 Diagram, 1 Graph.

مصطلحات موضوعية: *MUCOPOLYSACCHARIDOSIS, *LYSOSOMAL storage diseases, *PHENOTYPES, *KIDNEY diseases, *PRENATAL diagnosis, *PATIENTS

مصطلحات جغرافية: TURKEY

المؤلفون: Arslan, Alev^1,2, Poyrazoğlu, Hatice Gamze^3,4, Kiraz, Aslihan⁵, Özcan, Alper⁶, Işık, Halid⁶, Ergul, Ayse Betül⁶, Mungan, Neslihan Önenli⁷, Streubel, Berthold⁸, Ceylaner, Serdar⁹, Altuner Torun, Yasemin⁶

المصدر: Pediatrics International. Mar2016, Vol. 58 Issue 3, p241-243. 3p. 1 Graph.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *CONSANGUINITY, *METABOLIC disorders, *GENETIC mutation, *NERVOUS system, *GENOTYPES, *DIAGNOSIS

مصطلحات جغرافية: TURKEY

المؤلفون: Tüysüz, Beyhan¹ beyhan@istanbul.edu.tr, Goldin, Ehud², Metin, Barış³, Korkmaz, Barış³, Yalçınkaya, Cengiz³

المصدر: Brain & Development. Oct2009, Vol. 31 Issue 9, p702-705. 4p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *NEURODEGENERATION, *INTELLECTUAL disabilities, *BOYS, *OPACITY (Optics), *MICROGNATHIA, *GENETIC code, *DISEASES

مصطلحات جغرافية: TURKEY

المصدر: NewsRx COVID-19 Weekly; 2/17/2023, p118-118, 1p

مصطلحات موضوعية: COVID-19 pandemic, LYSOSOMAL storage diseases, COVID-19, CHILD care, GLYCOGEN storage disease type II, PROGNOSIS

مصطلحات جغرافية: TURKEY

المؤلفون: Topaloglu, Rezan, Vilboux, Thierry, Coskun, Turgay, Ozaltin, Fatih, Tinloy, Brad, Gunay-Aygun, Meral, Bakkaloglu, Aysin, Besbas, Nesrin, Heuvel, Lambert, Kleta, Robert, Gahl, William

المصدر: Pediatric Nephrology; Jan2012, Vol. 27 Issue 1, p115-121, 7p, 3 Diagrams, 2 Charts

مصطلحات موضوعية: INBORN errors of metabolism diagnosis, ACADEMIC medical centers, AMINES, CHRONIC kidney failure, GENETIC mutation, LYSOSOMAL storage diseases, POLYMERASE chain reaction, GENETICS, DISEASE risk factors

مصطلحات جغرافية: TURKEY

المؤلفون: Koca, S.¹, Ezgu, F.^1,2, Okur, I.¹, Biberoglu, G.¹, Tumer, L.¹, Bakkaloglu, S.³, Erten, Y.⁴, Bahceci, S.¹, Polat, M.¹, Hasanoglu, A.¹

المصدر: Clinical Therapeutics. Apr2012 Supplement, Vol. 34, pe24-e25. 0p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *ANGIOKERATOMA corporis diffusum, *ACADEMIC medical centers, *DOPPLER ultrasonography, *ALBUMINURIA, *AUDITORY perception testing, *BLOOD testing, *ECHOCARDIOGRAPHY, *ELECTROCARDIOGRAPHY, *GENES, *MAGNETIC resonance imaging, *MEDICAL screening, *GENETIC mutation, *PROTEINURIA, *PULMONARY function tests, *X-ray densitometry in medicine, *EARLY medical intervention, *FAMILY history (Medicine), *GENETIC carriers, *DIAGNOSIS

مصطلحات جغرافية: TURKEY