Last Posted: Dec 05, 2019
- 23 and Baby- We now have the ability to screen for thousands of genetic diseases in newborns. That may not always be the healthy thing to do.
T Lewis, Nature, December 4, 2019 - Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
Blom Maartje et al. Frontiers in immunology 2019 102438 - Impact of newborn screening on outcomes and social inequalities in cystic fibrosis: a UK CF registry-based study.
Schlüter Daniela K et al. Thorax 2019 Nov - When should genomic and exome sequencing be implemented in newborns? A call for an update to newborn screening guidelines.
Hendricks-Sturrup Rachele M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov - X-linked Adrenoleukodystrophy: Pathology, Pathophysiology, Diagnostic Testing, Newborn Screening, and Therapies.
Turk Bela R et al. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2019 Nov - Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Gubbels Cynthia S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov - Inborn Errors Of Metabolism In Neonatal Period: A Challenging Management In Tunisia.
Chioukh Fatma Zohra et al. La Tunisie medicale 2019 May 97(5) 681-684 - Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS.
Menkovic Iskren et al. Diagnostics (Basel, Switzerland) 2019 Nov 9(4) - 3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
Wang Huaiyan et al. Journal of pediatric endocrinology & metabolism : JPEM 2019 Nov - Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.
Fraser Hannah et al. Orphanet journal of rare diseases 2019 Nov 14(1) 258
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