Lakhasly

Online English Summarizer tool, free and accurate!

Summarize result (100%)

S.A. Berry, C. Brown, M. Grant, C.L. Greene, E. Jurecki Newborn screening 50 years later: access issues faced by adults with PKU Genet.http://scholar.google.com





Risk factor
Harris, Benjamin S. MD, MPH; Bishop, Katherine C. MD; Kemeny, Hanna R. BS; Walker, Jennifer S. MLS; Rhee, Eleanor MD; Kuller, Jeffrey A. MDRisk -Factors for Birth Defects: February 2017 - Volume 72 - Issue 2 - p 123-135[PubMed] [Google Scholar]
.(11)Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Hofman LF. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry..(5) Robin Wallims, Phenylketonuria: An Inborn Error of Phenylalanine Metabolism,2008 from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2423317
Naz Al Hafid Phenylketonuria: a review of current and future treatments,2015 from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728993 (6)./
Symptoms
Blau N. Genetics of Phenylketonuria: Then and Now.Ashraf El metwaly, The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review,2018 from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932526(4).1993;39:66-71 [PubMed] [Google Scholar]

.(12) Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.[PMC free article] [PubMed] [Google Scholar]

.(14) Park J, Jang W, Chae H, Kim Y, Chi HY, Kim M, et al. Comparison of targeted next-generation and sanger sequencing for the BRCA1 and BRCA2 mutation screening.[PubMed] [Google Scholar]


.(13) Park J, Jang W, Chae H, Kim Y, Chi HY, Kim M, et al. Comparison of targeted next-generation and sanger sequencing for the BRCA1 and BRCA2 mutation screening.(intoduction)

incednt
William L. Stone; phenylketonuria,2019, pubmed from https://www.ncbi.nlm.nih.gov/books/NBK535378(3).[PubMed] [Google Scholar]
.(10) Yang L, Mao H, Yang R. Delays in referral, and parents refusing treatment for children with PKU.(8) Blau NT, Cotton RG, Hyland K. Disorders of tetrahydrobiopterin and related biogenic amines.[Google Scholar]
.(9) Blau N, van Spronsen FJ, Levy HL. Phenylketonuria.(introduction)


Palermo, L., Geberhiwot, T., MacDonald, A., Limback, E., Hall, S. K., & Romani, C. (2017).Cognitive outcomes in early-treated adults with phenylketonuria (PKU): A comprehensive picture across domains.Management of phenylketonuria: a consensus document for the diagnosis and management of children, adolescents and adults with phenylketonuria (PKU).The Metabolic and Molecular Bases of Inherited Disease.[PMC free article] [PubMed] [Google Scholar]
Treatment?????"Recombinant Phe-free proteins for use in the treatment of phenylketonuria."http://www.nspku.org/.Journal of Inborn Errors of Metabolism and Screening, 5, 2326409816685734(17).Mol Genet Metab.Li, Qingshan, and Olof Kampe.National Society for Phenylketonuria (UK) Ltd.Hum Mutat.doi: 10.1002/humu.22980.Epub 2016 Mar 18.Citation on PubMed(7).In: Scriver CR, editor.Clin Chem.NSPKU (National Society for Phenylketonuria).Alternative therapies for PKU.Med., 15 (2013), pp. 591-599(1).Neuropsychology, 31(3), 255-267(2).2016 Jun;37(6):508-15.diagnosis

.New York: McGraw Hill; 2001.pp. 1725-76.Lancet.2011;104(Suppl):S2-9.Ann Lab Med.Ann Lab Med.U.S. Patent No. 10,174,354.Accessed 1 June 2016\ (16).Specola, N., & Chiesa, A. (2017).Review.2010;376:1417-27.2011;18:214.2016;36:197-201.(2014).


Original text

S.A. Berry, C. Brown, M. Grant, C.L. Greene, E. Jurecki Newborn screening 50 years later: access issues faced by adults with PKU Genet. Med., 15 (2013), pp. 591-599(1).
(introduction)


Palermo, L., Geberhiwot, T., MacDonald, A., Limback, E., Hall, S. K., & Romani, C. (2017). Cognitive outcomes in early-treated adults with phenylketonuria (PKU): A comprehensive picture across domains. Neuropsychology, 31(3), 255-267(2).
(intoduction)


incednt
William L. Stone; phenylketonuria,2019, pubmed from https://www.ncbi.nlm.nih.gov/books/NBK535378(3).
​ Ashraf El metwaly, The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review,2018 from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932526(4).
​.(5) Robin Wallims, Phenylketonuria: An Inborn Error of Phenylalanine Metabolism,2008 from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2423317

Naz Al Hafid Phenylketonuria: a review of current and future treatments,2015 from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728993 (6)./
Symptoms
Blau N. Genetics of Phenylketonuria: Then and Now. Hum Mutat. 2016 Jun;37(6):508-15. doi: 10.1002/humu.22980. Epub 2016 Mar 18. Review. Citation on PubMed(7).


diagnosis


. (8) Blau NT, Cotton RG, Hyland K. Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, editor. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw Hill; 2001. pp. 1725–76. [Google Scholar]
.(9) Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet. 2010;376:1417–27. [PubMed] [Google Scholar]
.(10) Yang L, Mao H, Yang R. Delays in referral, and parents refusing treatment for children with PKU. J Med Screen. 2011;18:214. [PubMed] [Google Scholar]
.(11)Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Hofman LF. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem. 1993;39:66–71 [PubMed] [Google Scholar]


.(12) Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab. 2011;104(Suppl):S2–9. [PubMed] [Google Scholar]


.(13) Park J, Jang W, Chae H, Kim Y, Chi HY, Kim M, et al. Comparison of targeted next-generation and sanger sequencing for the BRCA1 and BRCA2 mutation screening. Ann Lab Med. 2016;36:197–201. [PMC free article] [PubMed] [Google Scholar]


.(14) Park J, Jang W, Chae H, Kim Y, Chi HY, Kim M, et al. Comparison of targeted next-generation and sanger sequencing for the BRCA1 and BRCA2 mutation screening. Ann Lab Med. 2016;36:197–201. [PMC free article] [PubMed] [Google Scholar]
Treatmentترقيم


Li, Qingshan, and Olof Kämpe. "Recombinant Phe-free proteins for use in the treatment of phenylketonuria." U.S. Patent No. 10,174,354. 8 Jan. 2019 (15).


NSPKU (National Society for Phenylketonuria). (2014). Management of phenylketonuria: a consensus document for the diagnosis and management of children, adolescents and adults with phenylketonuria (PKU). National Society for Phenylketonuria (UK) Ltd. http://www.nspku.org/. Accessed 1 June 2016\ (16).


Spécola, N., & Chiesa, A. (2017). Alternative therapies for PKU. Journal of Inborn Errors of Metabolism and Screening, 5, 2326409816685734(17).


http://scholar.google.com


Risk factor
Harris, Benjamin S. MD, MPH; Bishop, Katherine C. MD; Kemeny, Hanna R. BS; Walker, Jennifer S. MLS; Rhee, Eleanor MD; Kuller, Jeffrey A. MDRisk -Factors for Birth Defects: February 2017 - Volume 72 - Issue 2 - p 123–135


Summarize English and Arabic text online

Summarize text automatically

Summarize English and Arabic text using the statistical algorithm and sorting sentences based on its importance

Download Summary

You can download the summary result with one of any available formats such as PDF,DOCX and TXT

Permanent URL

ٌYou can share the summary link easily, we keep the summary on the website for future reference,except for private summaries.

Other Features

We are working on adding new features to make summarization more easy and accurate


Latest summaries

إن اكتساب المعل...

إن اكتساب المعلومة لصفة السرية إما أن يرجع لطبيعتها الذاتية واتصافها بهذه الصفة لإعتبارات تتعلق بال...

Improved Design...

Improved Design Description According to the evaluation process, the old design has suffered from ma...

4. Navigational...

4. Navigational assistance: Using navigational technologies, the app can also point drivers in the d...

تقديم تعد العلا...

تقديم تعد العلاقات العامة في جوهرها من أقدم أدوات الاتصال عبر التاريخ. فهي أداة استخدمت بأسماء مختلف...

ليس خافيا على ا...

ليس خافيا على العارفين والدارسين بأن استخدام الوسائل الرقمية في التعليم كان قد بدأ منذ أربعة عقود ف...

تُواجه مريم تحد...

تُواجه مريم تحدّيًا جديدًا مع جريمة قتل غامضة تُزهق فيها حياة رجل أعمال ثري. كلّ الأدلة تشير إلى خال...

➤ Les flux dans...

➤ Les flux dans une économie mixte: Dans une économie de marché pure, toutes les ressources product...

هذا هو النوع ال...

هذا هو النوع الأكثر شيوعًا لتطور العواصف الرعدية. توجد على العواصف الرعدية الناضجة بالقرب من مركز ال...

Revenue Streams...

Revenue Streams: diversifying its revenue streams, Albaik ensures a stable and sustainable income fl...

وسألها مستنكراً...

وسألها مستنكراً عن إعدادها لحساء البندورة وأن والده أخبرها بعدم إعداده من قبل، فردت عليه بإن ذلك (صل...

Collection of s...

Collection of samples in the feld for epidemiological studies should be accompanied by a form that i...

بينهم اى اتفاق ...

بينهم اى اتفاق حول ما يجب ومالا يجب فعله ، ولكن طالما أننا لم نزود أنفسنا بتلك الاشياء التي تتطلبها ...