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Review and meta-analysis of the epidemiology of congenital cytomegalovirus (CMV) infection

Reviews in medical virology, 2007-07, Vol.17 (4), p.253-276

2007

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Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature

Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.1-279, Article 279

2020

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Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations

Orphanet journal of rare diseases, 2023-06, Vol.18 (1), p.155-155, Article 155

2023

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Primary Care Providers’ Use of Genetic Services in the Southeast United States: Barriers, Facilitators, and Strategies

Journal of primary care & community health, 2022-01, Vol.13, p.21501319221134752-21501319221134752

2022

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Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists

Journal of primary care & community health, 2021, Vol.12, p.21501327211046734-21501327211046734

2021

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The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.168-168, Article 168

2024

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Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry

Molecular genetics and metabolism reports, 2024-06, Vol.39, p.101092-101092, Article 101092

2024

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Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada

Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100865-100865, Article 100865

2022

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Social-ecological factors and preventive actions decrease the risk of dengue infection at the household-level: Results from a prospective dengue surveillance study in Machala, Ecuador

PLoS neglected tropical diseases, 2017-12, Vol.11 (12), p.e0006150-e0006150

2017

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GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review

Genetics in medicine, 2002-07, Vol.4 (4), p.258-274

2002

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The Use of Telemedicine and Other Strategies by Registered Dietitians for the Medical Nutrition Therapy of Patients With Inherited Metabolic Disorders During the COVID-19 Pandemic

Frontiers in nutrition (Lausanne), 2021-04, Vol.8, p.637868-637868

2021

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Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases

Molecular genetics and metabolism reports, 2020-09, Vol.24, p.100633-100633, Article 100633

2020

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A comparison of passive surveillance and active cluster-based surveillance for dengue fever in southern coastal Ecuador

BMC public health, 2020-07, Vol.20 (1), p.1065-10, Article 1065

2020

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Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry

Molecular genetics and metabolism, 2021-11, Vol.134 (3), p.243-249

2021

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eP534 - Telemedicine challenges and strategies for the medical nutrition therapy of patients with inherited metabolic disorders during the COVID-19 pandemic

Molecular genetics and metabolism, 2021-04, Vol.132, p.S346-S347

2021

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Telemedicine challenges and strategies for the medical nutrition therapy of patients with inherited metabolic disorders during the COVID-19 pandemic

Molecular genetics and metabolism, 2021-04, Vol.132, p.S346-S347

2021

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Adherence to american academy of pediatrics recommendations for cardiac care among female carriers of duchenne and becker muscular dystrophy

Pediatrics (Evanston), 2009-03, Vol.123 (3), p.e471-e475

2009

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Clinic-based infant screening for duchenne muscular dystrophy: a feasibility study

PLoS currents, 2012-05, Vol.4, p.e4f99c5654147a-e4f99c5654147a

2012

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Clinical geneticists’ and primary care physicians’ responses to hypothetical clinical scenarios

Molecular genetics and metabolism, 2021-04, Vol.132, p.S346

2021

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eP533 - Clinical geneticists’ and primary care physicians’ responses to hypothetical clinical scenarios

Molecular genetics and metabolism, 2021-04, Vol.132, p.S346-S346

2021

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The effect of caregiving on women in families with Duchenne/Becker muscular dystrophy

Health & social care in the community, 2010-09, Vol.18 (5), p.520-528

2010

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The diagnostic odyssey, clinical burden, and natural history of Barth syndrome: an analysis of patient registry data

Journal of Translational Genetics and Genomics, 2024-09, Vol.8 (3), p.285-98

2024

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Patatin-like phospholipase domain-containing protein 3 (PNPLA3):A potential role in the association between liver disease and bipolar disorder

Journal of affective disorders, 2017-02, Vol.209, p.93-96

2017

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Substance use disorders increase the odds of subsequent mood disorders

Drug and alcohol dependence, 2013-12, Vol.133 (2), p.338-343

2013

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The Burden of Dengue Fever and Chikungunya in Southern Coastal Ecuador: Epidemiology, Clinical Presentation, and Phylogenetics from the First Two Years of a Prospective Study

The American journal of tropical medicine and hygiene, 2018-01, Vol.98 (5), p.1444-1459

2018

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Review and meta-analysis of the epidemiology of congenital cytomegalovirus (CMV) infection

Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature

Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations

Primary Care Providers’ Use of Genetic Services in the Southeast United States: Barriers, Facilitators, and Strategies

Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists

The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency

Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry

Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada

Social-ecological factors and preventive actions decrease the risk of dengue infection at the household-level: Results from a prospective dengue surveillance study in Machala, Ecuador

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review

The Use of Telemedicine and Other Strategies by Registered Dietitians for the Medical Nutrition Therapy of Patients With Inherited Metabolic Disorders During the COVID-19 Pandemic

Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases

A comparison of passive surveillance and active cluster-based surveillance for dengue fever in southern coastal Ecuador

Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry

eP534 - Telemedicine challenges and strategies for the medical nutrition therapy of patients with inherited metabolic disorders during the COVID-19 pandemic

Telemedicine challenges and strategies for the medical nutrition therapy of patients with inherited metabolic disorders during the COVID-19 pandemic

Adherence to american academy of pediatrics recommendations for cardiac care among female carriers of duchenne and becker muscular dystrophy

Clinic-based infant screening for duchenne muscular dystrophy: a feasibility study

Clinical geneticists’ and primary care physicians’ responses to hypothetical clinical scenarios

eP533 - Clinical geneticists’ and primary care physicians’ responses to hypothetical clinical scenarios

The effect of caregiving on women in families with Duchenne/Becker muscular dystrophy

The diagnostic odyssey, clinical burden, and natural history of Barth syndrome: an analysis of patient registry data

Patatin-like phospholipase domain-containing protein 3 (PNPLA3):A potential role in the association between liver disease and bipolar disorder

Substance use disorders increase the odds of subsequent mood disorders

The Burden of Dengue Fever and Chikungunya in Southern Coastal Ecuador: Epidemiology, Clinical Presentation, and Phylogenetics from the First Two Years of a Prospective Study

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