Results 111 to 120 of about 148,879 (306)
Early identification and neonatal screening of severe combined immunodeficiencies [PDF]
, 2014 The thesis discusses the importance of the early identification and neonatal screening of severe combined immunodeficiency. It emphasizes the importance of implementation of worldwide-national newborn screening programs for the identification of SCID ...
Kupcha, Anna
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Hearing screening of neonates at risk
Saudi Medical Journal, 2003 OBJECTIVE: The aim of this study is to screen infants admitted to the Neonatal Intensive Care Unit (NICU) for hearing loss. METHODS: One hundred and thirty newborns admitted to NICU were screened for hearing loss using otocaustic emission (OAE). Tympanometry was performed using Grason Stadler Incorporation (GSI) 37 and auditory brain response (ABR ...
Alwan M, Maisoun, Siraj M, Zakzouk
openaire +2 more sources
Advanced Science, EarlyView.Malectin alleviates high glucose‐induced ER stress and damage in placental trophoblasts, a function dependent on its six critical carbohydrate‐binding residues. In a GDM mouse model, administration of TAT‐Malectin ameliorated hyperglycemia and placental ER stress and prevented fetal macrosomia.
Jiahui Zhu +12 more
wiley +1 more source
Economic evaluation of cystic fibrosis screening: A Review of the literature, CHERE Working Paper 2006/6 [PDF]
Objectives: To critically examine the economic evidence on Cystic Fibrosis (CF) screening and to understand issues relating to the transferability of findings to the Australian context for policy decisions.
Muralikrishnan Radhakrishnan +4 more
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Advanced Science, EarlyView.ABSTRACT Brown and beige adipocytes dissipate energy as heat, yet effective strategies to enhance their mitochondrial efficiency remain limited. Here, we identify Agnuside (AGN) as a selective stabilizer of the complex I assembly factor NDUFAF6. AGN directly binds cytosolic NDUFAF6, suppresses its ubiquitination, prolongs its half‐life, and facilitates
Qingwen Zhao +7 more
wiley +1 more source
Molecular Genetics & Genomic MedicineBackground Newborn screening (NBS) for isovaleric acidemia (IVA) is implemented via tandem mass spectrometry (MS/MS), but false‐positive results are still common.
Wei Zhou +3 more
doaj +1 more source
Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants
Molecular Genetics and Metabolism ReportsIsovaleric acidemia (IVA) is a rare autosomal recessive disorder that manifests as a deficiency of isovaleryl-CoA dehydrogenase (IVD), a key enzyme in leucine metabolism.
Huizhong Li, Fang Shao, Wei Zhou
doaj +1 more source
Advanced Science, EarlyView.Nitrosyl heme emerges as an extracellular nitrodilator that dilates arteries without crossing the cell membrane. Instead, heme‐NO mobilizes NO moieties from a preformed intracellular NO store within vascular smooth muscle, providing both functional and chemical evidence for the NANOS model, revealing a previously unrecognized mechanism of arterial ...
Taiming Liu +9 more
wiley +1 more source
Knowledge and Attitudes towards Sickle Cell Disease Screening: A Study of Members of the UK Sickle Cell Society [PDF]
, 2006 Over the past fifty years there has been an increase in the number of people in the UK who have a Sickle Cell Disorder (SCD) or are carriers. This increase has led to an expansion in research in this area; however one particular area that has not been ...
Millan, Jenny +2 more
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