ArticleJournal of pediatric hematology/oncology2010
Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico.
Article in Journal of pediatric hematology/oncology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
5 citing papers in PubMed, 15 citations in OpenAlex.
- Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3.Orphanet journal of rare diseases · 2022Article
- Oculocutaneous albinism and bleeding diathesis due to a novel deletion in theFrontiers in genetics · 2022Article
- Hermansky-Pudlak syndrome: Mutation update.Human mutation · 2020Article
- Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).Ophthalmic genetics · 2016Article
- Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.The Journal of pediatrics · 2011Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundHermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by albinism, mucocutaneous bleeding, and storage of ceroid material in macrophages. Patients who are not easily identified by physical characteristics (mostly HPS-3 patients) may have hemorrhagic complications with trauma or surgery.
objectiveTo determine the prevalence of HPS-3 in Puerto Rican newborns using DNA pooling technique. DESIGN/
methodsTwelve percent of annual Puerto Rican births were tested randomly by polymerase chain reaction for the HPS-3 mutation, using pooled DNA extracted from dried blood samples.
resultsHPS-3 mutation was detected in 75 samples. Two newborns were found to be homozygous. Carrier frequency was 1:85 (1.18%).
conclusionsThe HPS-3 carrier frequency found (1.18%) justifies universal newborn screening in Puerto Rico. DNA pooling reduces time and labor in newborn screening thus facilitating early diagnosis and treatment of children with HPS-3 and the provision of genetic counseling to parents and relatives.
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Registered trials
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