OMG.GENETICS

Forwarded from PedCore (Viktoria 👩‍⚕️ Sirotina)

✔️ ФЕНІЛКЕТОНУРІЯ

✅ NCBI
➖https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8591558/
➖https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639803/

✅ Medscape
➖https://emedicine.medscape.com/article/947781-overview

✅ UpToDate
➖https://www.uptodate.com/contents/overview-of-phenylketonuria?search=phenylketonuria&source=search_result&selectedTitle=1~138&usage_type=default&display_rank=1
➖https://www.uptodate.com/contents/newborn-screening-for-inborn-errors-of-metabolism?search=phenylketonuria&source=search_result&selectedTitle=3~138&usage_type=default&display_rank=3

✅ American College of Medical Genetics and Genomics
➖https://www.acmg.net/PDFLibrary/Phenylalanine-Hydroxylase-Deficiency-Diagnosis-Management.pdf
➖https://www.acmg.net/PDFLibrary/Phenylalanine.pdf
https://www.acmg.net/PDFLibrary/Phenylalanine-Algorithm.pdf

✅ BIMDG
➖https://bimdg.org.uk/store/enbs//PKU_clinical_management_guidelines_April_2015_747613_12052015.pdf

✅ NHS
➖https://www.nhs.uk/conditions/phenylketonuria/

✅ Mayoclinic
➖https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302

#фенілкетонурія

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✔️ ФЕНІЛКЕТОНУРІЯ

✅ NCBI
➖https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8591558/
➖https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639803/

✅ Medscape
➖https://emedicine.medscape.com/article/947781-overview

✅ UpToDate
➖https://www.uptodate.com/contents/overview-of-phenylketonuria?search=phenylketonuria&source=search_result&selectedTitle=1~138&usage_type=default&display_rank=1
➖https://www.uptodate.com/contents/newborn-screening-for-inborn-errors-of-metabolism?search=phenylketonuria&source=search_result&selectedTitle=3~138&usage_type=default&display_rank=3

✅ American College of Medical Genetics and Genomics
➖https://www.acmg.net/PDFLibrary/Phenylalanine-Hydroxylase-Deficiency-Diagnosis-Management.pdf
➖https://www.acmg.net/PDFLibrary/Phenylalanine.pdf
https://www.acmg.net/PDFLibrary/Phenylalanine-Algorithm.pdf

✅ BIMDG
➖https://bimdg.org.uk/store/enbs//PKU_clinical_management_guidelines_April_2015_747613_12052015.pdf

✅ NHS
➖https://www.nhs.uk/conditions/phenylketonuria/

✅ Mayoclinic
➖https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302

#фенілкетонурія