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SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait.

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Title: SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait.
Authors: Kazem L; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, P.O. Box 24923, Safat, 13110, 90805, Kuwait., Al-Qabandi W; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, P.O. Box 24923, Safat, 13110, 90805, Kuwait.; Department of Pediatrics, Amiri Hospital, Ministry of Health, 90005, Kuwait., Albash B; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Elshafie R; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., He M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Alsharhan H; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, P.O. Box 24923, Safat, 13110, 90805, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser 92426, Kuwait.
Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2025 Oct 15; Vol. 45, pp. 101269. Date of Electronic Publication: 2025 Oct 15 (Print Publication: 2025).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait.
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  Data: <searchLink fieldCode="AU" term="%22Kazem+L%22">Kazem L</searchLink>; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, P.O. Box 24923, Safat, 13110, 90805, Kuwait.<br /><searchLink fieldCode="AU" term="%22Al-Qabandi+W%22">Al-Qabandi W</searchLink>; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, P.O. Box 24923, Safat, 13110, 90805, Kuwait.; Department of Pediatrics, Amiri Hospital, Ministry of Health, 90005, Kuwait.<br /><searchLink fieldCode="AU" term="%22Albash+B%22">Albash B</searchLink>; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.<br /><searchLink fieldCode="AU" term="%22Elshafie+R%22">Elshafie R</searchLink>; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.<br /><searchLink fieldCode="AU" term="%22He+M%22">He M</searchLink>; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Alsharhan+H%22">Alsharhan H</searchLink>; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, P.O. Box 24923, Safat, 13110, 90805, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser 92426, Kuwait.
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  Data: <searchLink fieldCode="JN" term="%22101624422%22">Molecular genetics and metabolism reports</searchLink> [Mol Genet Metab Rep] 2025 Oct 15; Vol. 45, pp. 101269. <i>Date of Electronic Publication: </i>2025 Oct 15 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Inc%22">Elsevier Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101624422 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2214-4269 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222144269%22">22144269 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab Rep <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1016/j.ymgmr.2025.101269
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      – TitleFull: SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait.
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              Text: 2025 Oct 15
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