المؤلفون: Ugarteburu López, Olatz

المساهمون: University/Department: Universitat de Barcelona. Facultat de Farmàcia i Ciències de l'Alimentació

مرشدي الرسالة: Ribes Rubió, Antònia, Tort i Escalé, Frederic, Gomis, Ramón, 1946-

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Biologia molecular, Biología molecular, Molecular biology, Genètica bioquímica, Genética bioquímica, Biochemical genetics, Genètica mèdica, Genética médica, Medical genetics, Errors congènits del metabolisme, Enfermedades hereditarias metabólicas, Inborn errors of metabolism, Ciències de la Salut

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/674232

المؤلفون: Benetó Gandia, Noelia

المساهمون: University/Department: Universitat de Barcelona. Departament de Genètica, Microbiologia i Estadística

مرشدي الرسالة: Canals Montferrer, Isaac, Grinberg Vaisman, Daniel Raúl

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Errors congènits del metabolisme, Enfermedades hereditarias metabólicas, Inborn errors of metabolism, Cèl·lules mare, Células madre, Stem cells, Factors de transcripció, Factores de transcripción, Transcription factors, Expressió gènica, Expresión génica, Gene expression, Genètica mèdica, Genética médica, Medical genetics, Ciències Experimentals i Matemàtiques

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/673991

المؤلفون: Narawade, Sharwari, Mahalle, Namita, Bhavar, Swati, Waghule, Swapnali, Bobade, Sandeep, Naik, Sadanand^{Aff1, IDs12291024012508_cor6}

المصدر: Indian Journal of Clinical Biochemistry. :1-10

المؤلفون: Sen, Kuntal^{Aff1, IDs12028024020734_cor1}, Harrar, Dana, Pariseau, Nicole^{Aff2, Aff4}, Tucker, Karis, Keenan, Julia, Zhang, Anqing, Gropman, Andrea

المصدر: Neurocritical Care. :1-11

المؤلفون: Gonzalez-Rodriguez, Manuel, Marin-Valencia, Isaac^{Aff1, Aff2, IDs12311023016412_cor2}

المصدر: The Cerebellum. 23(4):1626-1641

المؤلفون: Natarajan, Sumathi, Kashyap, Ravindar, Rajan, Saira, Muthusamy, Dhivakar

المصدر: Egyptian Journal of Radiology & Nuclear Medicine; 9/19/2024, Vol. 55 Issue 1, p1-6, 6p

مصطلحات موضوعية: HEMOCHROMATOSIS diagnosis, INBORN errors of metabolism diagnosis, INBORN errors of metabolism, FETAL growth retardation, MAGNETIC resonance imaging, FETAL ultrasonic imaging, TREATMENT effectiveness, PRENATAL diagnosis, HEMOCHROMATOSIS, THYROID gland, WATER-electrolyte balance (Physiology), LIVER, HEMOSIDEROSIS, AMNIOTIC liquid, PREGNANCY complications, EARLY diagnosis

المؤلفون: Kishk, Omayma A., Kim, Ivone, Cheng, Carmen, Summan, Mukesh, Muñoz, Monica A.

المصدر: Pediatric Nephrology; Aug2024, Vol. 39 Issue 8, p2429-2433, 5p

مصطلحات موضوعية: INBORN errors of metabolism diagnosis, PHARMACOLOGY, DRUG side effects, COLON diseases, INBORN errors of metabolism, FIBROSIS, COLON (Anatomy), AMINES, ILEOSTOMY, DELAYED diagnosis, DISEASE complications

المؤلفون: Topaloglu, Rezan

المصدر: Pediatric Nephrology; Aug2024, Vol. 39 Issue 8, p2283-2292, 10p

مصطلحات موضوعية: CYSTEINE metabolism, INBORN errors of metabolism diagnosis, BEHAVIOR disorders, NEWBORN screening, EARLY medical intervention, CARDIOVASCULAR diseases, SKIN diseases, INBORN errors of metabolism, MUSCULOSKELETAL system diseases, CUTANEOUS manifestations of general diseases, HUMAN growth, EYE diseases, RESPIRATORY diseases, GENETIC counseling, PRENATAL diagnosis, FANCONI syndrome, EARLY diagnosis, ENDOCRINE diseases, CENTRAL nervous system diseases, BLOOD diseases, GASTROINTESTINAL diseases, BIOMARKERS, DISEASE progression, DISEASE risk factors, DISEASE complications

المؤلفون: Zöggeler, Thomas^{Aff1, Aff2, IDs00608024011909_cor1}, Scholl-Bürgi, Sabine, Karall, Daniela

المصدر: Pädiatrie & Pädologie: Österreichische Zeitschrift für Kinder- & Jugendheilkunde. 59(2):88-94

المؤلفون: Akar, Halil Tuna^{Aff1, IDs13730023008048_cor1}, Yıldız, Yılmaz, Mutluay, Rüya, Tekin, Emel, Tokatlı, Ayşegül

المصدر: CEN Case Reports: Official Publication of the Japanese Society of Nephrology. 13(2):81-85