Current status of newborn screening worldwide: 2015

BL Therrell, CD Padilla, JG Loeber, I Kneisser… - Seminars in …, 2015 - Elsevier
Newborn screening describes various tests that can occur during the first few hours or days
of a newborn's life and have the potential for preventing severe health problems, including …

The α-thalassemias

FB Piel, DJ Weatherall - New England Journal of Medicine, 2014 - Mass Medical Soc
The α-Thalassemias | New England Journal of Medicine Skip to main content The New
England Journal of Medicine homepage Advanced Search SEARCH SPECIALTIES Cardiology …

G6PD deficiency prevalence and estimates of affected populations in malaria endemic countries: a geostatistical model-based map

RE Howes, FB Piel, AP Patil, OA Nyangiri… - PLoS …, 2012 - journals.plos.org
Background Primaquine is a key drug for malaria elimination. In addition to being the only
drug active against the dormant relapsing forms of Plasmodium vivax, primaquine is the sole …

Screening for congenital hypothyroidism: a worldwide view of strategies

G Ford, SH LaFranchi - Best practice & research Clinical endocrinology & …, 2014 - Elsevier
Detection by newborn screening (NBS) and treatment of babies with congenital
hypothyroidism (CH) has largely eliminated the intellectual disability caused by this disorder …

Inborn errors of metabolism and expanded newborn screening: review and update

CM Mak, HCH Lee, AYW Chan… - Critical reviews in clinical …, 2013 - Taylor & Francis
Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous
group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning …

Efficacy and outcome of expanded newborn screening for metabolic diseases-Report of 10 years from South-West Germany

M Lindner, G Gramer, G Haege… - Orphanet journal of rare …, 2011 - Springer
Background National newborn screening programmes based on tandem-mass spectrometry
(MS/MS) and other newborn screening (NBS) technologies show a substantial variation in …

G6PD testing in support of treatment and elimination of malaria: recommendations for evaluation of G6PD tests

GJ Domingo, AW Satyagraha, A Anvikar, K Baird… - 2013 - Springer
Malaria elimination will be possible only with serious attempts to address asymptomatic
infection and chronic infection by both Plasmodium falciparum and Plasmodium vivax …

Identification of neonates at risk for hazardous hyperbilirubinemia: emerging clinical insights

JF Watchko - Pediatric Clinics, 2009 - pediatric.theclinics.com
Hyperbilirubinemia is the most common condition requiring evaluation and treatment in
neonates, but for most newborns, it is a benign postnatal transitional phenomenon of no …

Review of key knowledge gaps in glucose-6-phosphate dehydrogenase deficiency detection with regard to the safe clinical deployment of 8-aminoquinoline treatment …

L Von Seidlein, S Auburn, F Espino, D Shanks… - Malaria journal, 2013 - Springer
The diagnosis and management of glucose-6-phosphate dehydrogenase (G6PD) deficiency
is a crucial aspect in the current phases of malaria control and elimination, which will require …

A global need for affordable neonatal jaundice technologies

TM Slusher, A Zipursky, VK Bhutani - Seminars in perinatology, 2011 - Elsevier
Globally, health care providers worldwide recognize that severe neonatal jaundice is a
“silent” cause of significant neonatal morbidity and mortality. Untreated neonatal jaundice …