Results 71 to 80 of about 11,732 (218)

Newborn Urinary Metabolic Signatures of Prematurity and Other Disorders: A Case Control Study [PDF]

open access: yes, 2001
This work assesses the urinary metabolite signature of prematurity in newborns by nuclear magnetic resonance (NMR) spectroscopy, while establishing the role of possible confounders and signature specificity, through comparison to other disorders.
Sílvia O. Diaz   +13 more
core   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

open access: yesPeriodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer   +4 more
wiley   +1 more source

The influence of portal blood upon lipid metabolism in normal and diabetic dogs and baboons [PDF]

open access: yes, 1975
It has been reported that hyperlipidemia can be alleviated in human beings with an end to side portacaval shunt. Understanding the mechanism of the effect has important implications, including the possibility of devising other ways of lowering serum ...
Lee, IY   +3 more
core  

A multi‐omics investigation of sarcopenia and frailty: Integrating genomic, epigenomic and telomere length data

open access: yesExperimental Physiology, EarlyView.
Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė   +10 more
wiley   +1 more source

Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation [PDF]

open access: yes, 1986
A 7-year-old girl with progressive ataxia, spasticity, supranuclear ophthalmoplegia, and sea-blue histiocytes in her bone marrow underwent orthotopic liver transplantation for hepatocellular carcinoma.
Bergman, I   +8 more
core  

REVERSAL OF HEPATIC ALPHA-1-ANTITRYPSIN DEPOSITION AFTER PORTACAVAL SHUNT [PDF]

open access: yes, 1983
End-to-side portacaval shunts were carried out in three children with the liver disease of alpha-1-antitrypsin deficiency and complications of portal hypertension. Their clinical courses have been stable for 31/2 to almost 7 years.
Aagenaes   +17 more
core   +1 more source

Cannabinoid exposure during pregnancy: Cardiorespiratory effects and offspring outcomes

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Prenatal exposure to cannabinoids has been investigated across human and animal studies to understand its impact on physiological development. Evidence suggests that early‐life cannabinoid exposure influence multiple developmental processes, extending beyond neurodevelopmental outcomes to potentially affect placental function ...
Luis Gustavo A. Patrone   +1 more
wiley   +1 more source

A Case Series of Sudden Death in Children Aged 12 Months to 4 Years From LPIN1 Deficiency and PPA2 Deficiency in Queensland

open access: yes
Journal of Paediatrics and Child Health, EarlyView.
Sophie Manoy   +11 more
wiley   +1 more source

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

open access: yesMuscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho   +8 more
wiley   +1 more source

Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome. [PDF]

open access: yes, 2019
Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders.
Abbeduto, Leonard   +3 more
core   +1 more source

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