-
1دورية أكاديمية
المؤلفون: Barut, Doğan1 (AUTHOR) barutd047@gmail.com, Kıran Taşcı, Ezgi1 (AUTHOR), Kunay, Bora1 (AUTHOR), Güven, Burcu2 (AUTHOR), Aksoy, Betül3 (AUTHOR), Çağan Appak, Yeliz3 (AUTHOR), Karakoyun, Miray1 (AUTHOR), Çetin, Funda1 (AUTHOR), Selimoğlu, Ayşe4 (AUTHOR), Onay, Huseyin5 (AUTHOR), Aydoğdu, Sema1 (AUTHOR)
المصدر: Scandinavian Journal of Gastroenterology. Jun2024, Vol. 59 Issue 6, p647-651. 5p.
مصطلحات موضوعية: *ENZYME replacement therapy, *ENZYME deficiency, *SYMPTOMS, *GENETIC mutation, *GENETIC variation
مصطلحات جغرافية: TURKEY
-
2دورية أكاديمية
المؤلفون: Pan, Xuefang1 (AUTHOR) xuefang.pan.hsj@ssss.gouv.qc.ca, Caillon, Antoine1 (AUTHOR) antoine.caillon.etud@gmail.com, Fan, Shuxian1,2 (AUTHOR) shuxian.fan@mail.mcgill.ca, Khan, Shaukat3 (AUTHOR) shaukat.khan@nemours.org, Tomatsu, Shunji3 (AUTHOR) shunji.tomatsu@nemours.org, Pshezhetsky, Alexey V.1,2 (AUTHOR) alexei.pchejetski@umontreal.ca
المصدر: Cells (2073-4409). May2024, Vol. 13 Issue 10, p877. 21p.
مصطلحات موضوعية: *XENOTRANSPLANTATION, *ENZYME deficiency, *LYSOSOMAL storage diseases, *HEPARAN sulfate, *XENOGRAFTS
-
3دورية أكاديمية
المؤلفون: Mayhew, David1 (AUTHOR) david.mayhew@lhch.nhs.uk, Palmer, Kenneth1 (AUTHOR) kenneth.palmer@lhch.nhs.uk, Wilson, Ian2 (AUTHOR) ian.wilson@lhch.nhs.uk, Watson, Stuart3 (AUTHOR) stuart.watson@nca.nhs.uk, Stepien, Karolina M.4 (AUTHOR) karolina.stepien@nca.nhs.uk, Jenkins, Petra5 (AUTHOR) petra.jenkins@lhch.nhs.uk, Gadepalli, Chaitanya6,7 (AUTHOR) chaitanya.gadepalli@nca.nhs.uk
المصدر: Journal of Clinical Medicine. Mar2024, Vol. 13 Issue 5, p1366. 16p.
مصطلحات موضوعية: *CARDIAC surgery, *ENZYME deficiency, *POSTOPERATIVE period, *BIOMEDICAL engineering, *SURGICAL complications, *EXTUBATION
-
4دورية أكاديمية
المؤلفون: Yılmaz, Begüm1 (AUTHOR), Ceylan, Ahmet Cevdet2,3 (AUTHOR), Gündüz, Mehmet4 (AUTHOR), Ünal Uzun, Özlem5 (AUTHOR), Küçükcongar Yavaş, Aynur4 (AUTHOR), Bilginer Gürbüz, Berrak4 (AUTHOR), Öncül, Ümmühan4 (AUTHOR), Güleç Ceylan, Gülay2,3 (AUTHOR), Kasapkara, Çiğdem Seher4,6 (AUTHOR) cskasapkara@gmail.com
المصدر: European Journal of Pediatrics. Mar2024, Vol. 183 Issue 3, p1341-1351. 11p.
مصطلحات موضوعية: *INBORN errors of metabolism, *ENZYME deficiency, *NEWBORN screening, *URBAN hospitals, *GENETIC mutation, *RECESSIVE genes, *SKIN absorption
مصطلحات جغرافية: TURKEY
-
5دورية أكاديمية
المؤلفون: de Moura H., Macêdo1 hugomacmoura@gmail.com, Costa V., Lira da Câmara1, Queiroz M. C., Araujo Palmeira1, J. P., Ribeiro Junior1, Lima P., Melo de Oliveira1
المصدر: European Journal of Pediatric Dermatology. 2024, Vol. 34 Issue 1, p12-15. 4p.
مصطلحات موضوعية: *ENZYME deficiency, *GENETIC disorders, *MELANOCYTES, *GANGLIOSIDES, *EARLY diagnosis
-
6دورية أكاديمية
المؤلفون: Lebedev, A. S.1,2,3 (AUTHOR), Kotova, M. M.2 (AUTHOR), Kolesnikova, T. O.2 (AUTHOR), Galstyan, D. S.1,3,4 (AUTHOR), Kalueff, A. V.1,2,3,4,5 (AUTHOR) avkalueff@gmail.com
المصدر: Journal of Evolutionary Biochemistry & Physiology. Nov2023, Vol. 59 Issue 6, p2072-2085. 14p.
مصطلحات موضوعية: *LYSOSOMAL storage diseases, *ENZYME deficiency, *BRAIN damage
-
7دورية أكاديمية
المؤلفون: Rijal, Divas1 (AUTHOR) rijaldivas@gmail.com, Rijal, Prabhat2 (AUTHOR), Bohare, Shyam Murti2 (AUTHOR), Chaudhari, Ashish Sanjay2 (AUTHOR), Dhungel, Mandip3 (AUTHOR), Agarwal, Mayank2 (AUTHOR), Bhatta, Pramish4 (AUTHOR), Dhakal, Tulsi Ram4 (AUTHOR), Bishwokarma, Anjali4 (AUTHOR), Kafle, Pooja1 (AUTHOR)
المصدر: Clinical Case Reports. Nov2023, Vol. 11 Issue 11, p1-6. 6p.
مصطلحات موضوعية: *LITERATURE reviews, *ENZYME deficiency, *SYMPTOMS, *SYNDROMES, *HYPERBILIRUBINEMIA
-
8دورية أكاديمية
المؤلفون: Bonfim‐Freitas, Pedro E.1 (AUTHOR) pedrofreitas@iec.gov.br, Andrade, Roseani S.2 (AUTHOR), Ribeiro‐dos‐Santos, Ândrea K.3 (AUTHOR), Silva, Luiz C. Santana‐da1 (AUTHOR)
المصدر: Molecular Genetics & Genomic Medicine. Oct2023, Vol. 11 Issue 10, p1-10. 10p.
مصطلحات موضوعية: *PHENYLKETONURIA, *ENZYME deficiency, *GENETIC variation, *DNA sequencing, *MEDICAL records
مصطلحات جغرافية: PARA (Brazil : State), BRAZIL, IBERIAN Peninsula
-
9دورية أكاديمية
المؤلفون: Arslan, Müjgan1 mujganarslan@yahoo.com, Özbaş, Halil2, Karakoç, Şeyma3, Karataş, Rüveyda Menekşe3
المصدر: Journal of Pediatric Academy (J. Pediatr. Acad.). 2023, Vol. 4 Issue 3, p113-116. 4p.
مصطلحات موضوعية: *ENZYME deficiency, *NEURODEVELOPMENTAL treatment, *NEONATAL diseases, *MEDICAL records, *GENETIC disorders, *ENZYME activation
-
10دورية أكاديمية
المؤلفون: St-Louis, Johanna L.1,2, El Jellas, Khadija1,2, Velasco, Kelly2, Slipp, Brittany A.1, Jiang Hu1, Helgeland, Geir2, Steine, Solrun J.2, De Jesus, Dario F.1,3,4, Kulkarni, Rohit N.1,3,4, Molven, Anders2,5 anders.molven@uib.no
المصدر: Journal of Biological Chemistry. Aug2023, Vol. 299 Issue 8, p1-13. 13p.
مصطلحات موضوعية: *ENZYME deficiency, *INSULIN, *PANCREATIC enzymes, *HYPOGLYCEMIA, *AMINO acids, *BLOOD sugar, *LEUCINE, *HYPERGLYCEMIA