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Genomics and Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB
Last data update: Dec 01, 2020. (Total: 37297 Documents since 2012)
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Records 1-30 (of 36 Record(s))
Query Trace: Newborn screening[original query]>>Guidelines[Product Type]
Publication
Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Miller Marcus J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Oct
Newborn screening timeliness quality improvement initiative: Impact of national recommendations and data repository.
Sontag Marci K et al. PloS one 2020 15(4) e0231050
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802.
et al. Obstetrics and gynecology 2020 Apr 135(4) 987-988
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion, Number 802.
et al. Obstetrics and gynecology 2020 Apr 135(4) e167-e170
[Clinical practice guidelines for phenylketonuria].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 226-234
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who have 4 Copies of SMN2.
et al. Journal of neuromuscular diseases 2020 Jan
A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean.
Zarante Ignacio et al. Revista panamericana de salud publica = Pan American journal of public health 2019 43e2
ACOG Committee Opinion No. 778: Newborn Screening and the Role of the Obstetrician-Gynecologist.
et al. Obstetrics and gynecology 2019 May 133(5) e357-e361
ACOG Committee Opinion No. 778 Summary: Newborn Screening and the Role of the Obstetrician-Gynecologist.
et al. Obstetrics and gynecology 2019 May 133(5) 1073-1074
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.
Kemper Alex R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 19(1) 121-126
The decision to discontinue screening for carnitine uptake disorder in New Zealand.
Wilson Callum et al. Journal of inherited metabolic disease 2018 Apr
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.
Glascock Jacqueline et al. Journal of neuromuscular diseases 2018 Mar
ECFS best practice guidelines: the 2018 revision.
Castellani Carlo et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Mar
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
Kwon Jennifer M et al. Orphanet journal of rare diseases 2018 Feb 13(1) 30
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Pasquali Marzia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct
Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.
Sermet-Gaudelus I et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2017 Nov
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.
Borghesi Alessandro et al. Italian journal of pediatrics 2017 Nov 43(1) 100
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky Jeffrey M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Strovel Erin T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul
Expanded Newborn Screening: Information and Resources for the Family Physician.
Weismiller David Glenn et al. American family physician 2017 Jun 95(11) 703-709
Genomic newborn screening: public health policy considerations and recommendations.
Friedman Jan M et al. BMC medical genomics 2017 Feb 10(1) 9
Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation.
Farrell Philip M et al. The Journal of pediatrics 2017 Feb 181SS4-S15.e1
Diagnosis of Cystic Fibrosis in Screened Populations.
Farrell Philip M et al. The Journal of pediatrics 2017 Feb 181SS33-S44.e2
AWHONN Position Statement. Newborn Screening.
et al. Journal of obstetric, gynecologic, and neonatal nursing : JOGNN 45(1) 135-6
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Baric Ivo et al. Journal of inherited metabolic disease 2016 Sep
Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.
Singh Rani H et al. Molecular genetics and metabolism 2016 Apr
Newborn hearing screening programme in Belgium: a consensus recommendation on risk factors.
Vos Bénédicte et al. BMC pediatrics 2015 15(1) 160
[New recommendations for the Dutch neonatal screening programmeA report from the Health Council of the Netherlands].
Cornel M C et al. Ned Tijdschr Geneeskd 2015 159(0) A9115
Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes.
Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
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