Results 131 to 140 of about 1,245,890 (249)

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

open access: yes
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman   +18 more
wiley   +1 more source

Progress in Synthesis and Pharmacology of Telmisartan

open access: yesChemistry &Biodiversity, Volume 23, Issue 9, September 2026.
Telmisartan is a benzimidazole derivative and a well‐known drug to treat hypertension. This review provides synthesis and understanding of telmisartan as an antihypertensive drug through two mechanisms of actions: RAAS inhibitor and PPARγ receptor. Effective repurposing of this drug for various diseases like chronic kidney illness, diabetes, fatty ...
Megha, Richa Srivastava, Ram Singh
wiley   +1 more source

Longitudinal Clinical Progression in X‐Linked Adrenoleukodystrophy: The AMNL Scoring System

open access: yesAnnals of the Child Neurology Society, Volume 4, Issue 3, Page 219-226, September 2026.
ABSTRACT Objective The current clinical nomenclature for individuals with ABCD1 gene dysfunction is often uninformative. The disorder was initially described as a combination of adrenal insufficiency and leukodystrophy, leading to the widespread use of “X‐linked adrenoleukodystrophy” (ALD).
Eda G. Kabak   +7 more
wiley   +1 more source

Newborn screening : health impact and return on investment

open access: yes
In the last five decades, newborn screening has become a well-defined, nationwide prevention program. Each year, more than 4 million newborns in the United States are screened for hearing loss and certain genetic, endocrine, and metabolic disorders ...

core  

OTHER TITLE: Annual Report for State Fiscal Year 2011 (July 2010 - June 2011)

open access: yes, 2011
"December 2011."Gavin, a Mother's Story -- Why Newborn Screening? -- Goals of the Kansas Newborn Screening Program -- Program Overview -- Advisory Council -- A Systems Approach to Newborn Screening -- Newborn Screening Test Results -- Positive ...
Kansas Newborn Screening Program.
core   +1 more source

Newborn screening for cystic fibrosis: report and recommendations

open access: yes, 2005
This archived document is maintained by the Oregon State Library as part of the Oregon Documents Depository Program. It is for informational purposes and may not be suitable for legal purposes.Title from PDF cover (viewed on Apr.

core  

Applications of Machine Learning in Noninvasive Anemia Diagnosis: A Systematic Review Based on Cross‐Industry Standard Process for Data Mining

open access: yesHealth Science Reports, Volume 9, Issue 9, September 2026.
ABSTRACT Background and Aims Anemia is a disorder caused by insufficient red blood cell count or hemoglobin concentration, affecting nearly a quarter of the global population each year. An undiagnosed condition can escalate into life‐threatening complications, particularly among pregnant women and children. Although anemia causes identifiable symptoms,
Mohammad Hadi Ghahroudi   +2 more
wiley   +1 more source

Medium Chain Acyl‐CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal Ketoacidosis

open access: yesJIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) classically presents with hypoketotic hypoglycaemia; however, this presentation is now rare following the introduction of newborn screening. While children with MCADD may produce some ketones, severe ketoacidosis has not been previously described.
Nazreen Kamarus Jaman   +7 more
wiley   +1 more source

Hormonal Responses to a Short Daytime Fast in Children With Beta‐Oxidation Disorders

open access: yesJIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Fasting‐induced cellular energy deficiency and hypoglycemia are well‐known complications of beta‐oxidation disorders. The changes in energy homeostasis during fasting are under hormonal regulation. This aspect of fasting metabolism in beta‐oxidation disorders is not fully characterized.
David Olsson   +4 more
wiley   +1 more source

45* Meconium ileus in cystic fibrosis newborn screening (CF NBS)

open access: yesJournal of Cystic Fibrosis, 2011
Sands, P.   +5 more
openaire   +1 more source

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