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

المؤلفون: Pan, Xuefang¹ (AUTHOR) xuefang.pan.hsj@ssss.gouv.qc.ca, Caillon, Antoine¹ (AUTHOR) antoine.caillon.etud@gmail.com, Fan, Shuxian^1,2 (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

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, Chaitanya^6,7 (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

المؤلفون: Yılmaz, Begüm¹ (AUTHOR), Ceylan, Ahmet Cevdet^2,3 (AUTHOR), Gündüz, Mehmet⁴ (AUTHOR), Ünal Uzun, Özlem⁵ (AUTHOR), Küçükcongar Yavaş, Aynur⁴ (AUTHOR), Bilginer Gürbüz, Berrak⁴ (AUTHOR), Öncül, Ümmühan⁴ (AUTHOR), Güleç Ceylan, Gülay^2,3 (AUTHOR), Kasapkara, Çiğdem Seher^4,6 (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

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

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

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

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

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

المؤلفون: St-Louis, Johanna L.^1,2, El Jellas, Khadija^1,2, 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, Anders^2,5 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