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1دورية أكاديمية
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
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2دورية أكاديمية
المؤلفون: Kishk, Omayma A., Kim, Ivone, Cheng, Carmen, Summan, Mukesh, Muñoz, Monica A.
المصدر: Pediatric Nephrology; Aug2024, Vol. 39 Issue 8, p2429-2433, 5p
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3دورية أكاديمية
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
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4دورية أكاديمية
المؤلفون: Moreno Sánchez, Amelia, García Atarés, Álvaro, Molina Herranz, David, Antoñanzas Torres, Irene, Romero Salas, Yolanda, Ruiz del Olmo Izuzquiza, José Ignacio
المصدر: Pediatric Nephrology; Nov2024, Vol. 39 Issue 11, p3233-3239, 7p
مصطلحات موضوعية: INBORN errors of metabolism diagnosis, WEIGHT loss, URINARY tract infections, INBORN errors of metabolism, SCIENTIFIC observation, RETROSPECTIVE studies, TERTIARY care, CHILDREN'S hospitals, DESCRIPTIVE statistics, PEDIATRICS, NEPHROLOGY, MEDICAL records, ACQUISITION of data, RESEARCH methodology, INTENSIVE care units, UROLOGICAL surgery, SYMPTOMS
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5دورية أكاديمية
المؤلفون: Jasinge, Eresha, Fernando, Mihika, Indika, Neluwa-Liyanage Ruwan, Ratnayake, Pyara Dilani, Gamaathige, Nalin, Ratnaranjith, Ratnanathan, Schroeder, Sabine, Jones, Patricia, Volha, Skrahina, Jayasena, Subhashinie, Gunaratna, Anusha Varuni, Bandara Ekanayake, Asitha Niroshana, Rolfs, Arndt
المصدر: Advances in Laboratory Medicine / Avances en Medicina de Laboratorio; Jun2024, Vol. 5 Issue 2, p205-212, 8p
مصطلحات موضوعية: INBORN errors of metabolism diagnosis, PHENOMENOLOGICAL biology, DIFFERENTIAL diagnosis, INBORN errors of metabolism, BIOCHEMISTRY, BICARBONATE ions, TREATMENT effectiveness, AMINO acids, GENETIC mutation, MOLECULAR pathology, BIOMARKERS, GENOTYPES, PHENOTYPES, GENETIC testing, SYMPTOMS
مصطلحات جغرافية: SRI Lanka
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6دورية أكاديمية
المؤلفون: Judy, Rebecca L., Reynolds, Joanna L., Jnah, Amy J.
المصدر: Neonatal Network; May/Jun2024, Vol. 43 Issue 3, p139-147, 9p
مصطلحات موضوعية: DIAGNOSIS of epilepsy, INBORN errors of metabolism diagnosis, METABOLIC disorders, NEWBORN screening, CONTINUING education units, ZELLWEGER Syndrome, MEDICAL quality control, PATIENT safety, INBORN errors of metabolism, NEONATAL diseases, AGE factors in disease, SEIZURES (Medicine), MOLECULAR structure, OXIDOREDUCTASES, EPILEPSY, MAPLE syrup urine disease, CHILDHOOD epilepsy, DISEASE complications
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7دورية أكاديمية
المؤلفون: Serra, Gregorio, Antona, Vincenzo, Insinga, Vincenzo, Morgante, Giusy, Vassallo, Alessia, Placa, Simona La, Piro, Ettore, Salerno, Sergio, Schierz, Ingrid Anne Mandy, Gitto, Eloisa, Giuffrè, Mario, Corsello, Giovanni
المصدر: Italian Journal of Pediatrics; 4/14/2024, Vol. 50, p1-7, 7p
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8دورية أكاديمية
المؤلفون: Alsarraf, F., Ali, D.S., Almonaei, K., Al-Alwani, H., Khan, A.A., Brandi, M.L.
المصدر: Osteoporosis International; Apr2024, Vol. 35 Issue 4, p717-725, 9p
مصطلحات موضوعية: INBORN errors of metabolism diagnosis, OSTEOPENIA, MYALGIA, METALS in the body, PATIENT safety, INBORN errors of metabolism, BONE diseases, IMMUNOGLOBULINS, SYMPTOMS, ALKALINE phosphatase, TREATMENT effectiveness, AGE factors in disease, MUSCLE strength, WALKING, RECOMBINANT proteins, QUALITY of life, GENETIC mutation, DRUG tolerance
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9دورية أكاديمية
المؤلفون: Regnier, Maitena, Flammier, Sacha, Boutaba, Mounia, Ndongo, Aliou Abdoulaye, Servais, Aude, Schaefer, Franz, Levtchenko, Elena, Bacchetta, Justine, Bertholet-Thomas, Aurélia
المصدر: Pediatric Nephrology; Apr2024, Vol. 39 Issue 4, p1113-1123, 11p
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10دورية أكاديمية
المؤلفون: An, Mihee, Kim, Jeonghui
المصدر: Physical & Occupational Therapy in Pediatrics; 2024, Vol. 44 Issue 2, p198-215, 18p
مصطلحات موضوعية: INBORN errors of metabolism diagnosis, STRATEGIC planning, PATIENT participation, FATHERS' attitudes, STATISTICAL reliability, MEDICAL personnel, SATISFACTION, PATIENTS' families, HUMAN services programs, MULTITRAIT multimethod techniques, INTERPROFESSIONAL relations, ASSISTIVE technology, PLAY, PHYSICAL mobility, GOAL (Psychology), CHILDREN