Results 101 to 110 of about 8,820 (262)

Pediatric palliative care for metabolic diseases: 20‐year epidemiological survey of outpatients at a Brazilian quaternary hospital

open access: yesJIMD Reports, Volume 65, Issue 3, Page 182-187, May 2024.
Abstract The interface between pediatric palliative care (PPC) and inborn metabolic diseases (IMD) remains incipient, though these conditions fill the state of art of complex chronic diseases, eligible to this health approach. We analyzed the medical records of PPC clinic during the years 2001 to 2021 and the IMD outpatients.
Gustavo Marquezani Spolador   +9 more
wiley   +1 more source

HPRT1 Deficiency Induces Alteration of Mitochondrial Energy Metabolism in the Brain [PDF]

open access: yes, 2023
Alterations in function of hypoxanthine guanine phosphoribosyl transferase (HPRT), one of the major enzymes involved in purine nucleotide exchange, lead to overproduction of uric acid and produce various symptoms of Lesch-Nyhan syndrome (LNS). One of the
Abramov, AY   +8 more
core  

Electrochemical biosensors and power supplies for wearable health‐managing textile systems

open access: yesInterdisciplinary Materials, Volume 3, Issue 2, Page 270-296, March 2024.
Wearable electrochemical biosensors are fostering a paradigm shift in human health management and medical practices. Textile platforms are the most promising candidates for next‐generation non‐invasive and comfort interaction mode with healthcare.
Changxin Li   +4 more
wiley   +1 more source

β-Amyloid precursor protein (APP) and the human diseases

open access: yesAIMS Neuroscience, 2019
Several pathophysiological functions of the human β-amyloid precursor protein (APP) have been recently proposed in different human diseases such as neurodevelopmental and neurodegenerative disorders including rare diseases such as autism, fragile X ...
Khue Vu Nguyen
doaj   +1 more source

Syndrome Measurement Order for the [[7,1,3]] Quantum Error Correction Code [PDF]

open access: yesarXiv, 2013
In this work we explore the accuracy of quantum error correction depending of the order of the implemented syndrome measurements. CSS codes require bit-flip and phase flip-syndromes be measured separately. To comply with fault tolerant demands and to maximize accuracy this set of syndrome measurements should be repeated allowing for flexibility in the ...
arxiv  

Dental management of oral self-mutilation in neurological patients : a case of congenital insensitivity to pain with anhidrosis [PDF]

open access: yes, 2008
Hereditary sensory and autonomic neuropathy type IV is a rare disease characterized by fever episodes, mental retardation of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital ...
García Recuero, Ignacio Ismael   +3 more
core  

Machine learning identifies fatigue as a key symptom of fibromyalgia reflected in tyrosine, purine, pyrimidine, and glutaminergic metabolism

open access: yesClinical and Translational Science, Volume 17, Issue 3, March 2024.
Abstract Fibromyalgia patients vary in clinical phenotype and treatment can be challenging. The pathophysiology of fibromyalgia is incompletely understood but appears to involve metabolic changes at rest or in response to stress. We enrolled 54 fibromyalgia patients and 31 healthy controls to this prospective study.
Teemu Zetterman   +4 more
wiley   +1 more source

Emerging Role of Purine Metabolizing Enzymes in Brain Function and Tumors [PDF]

open access: yes, 2018
The growing evidence of the involvement of purine compounds in signaling, of nucleotide imbalance in tumorigenesis, the discovery of purinosome and its regulation, cast new light on purine metabolism, indicating that well known biochemical pathways may ...
Allegrini, Simone   +5 more
core   +1 more source

Correction of Data and Syndrome Errors by Stabilizer Codes [PDF]

open access: yesarXiv, 2016
Performing active quantum error correction to protect fragile quantum states highly depends on the correctness of error information--error syndromes. To obtain reliable error syndromes using imperfect physical circuits, we propose the idea of quantum data-syndrome (DS) codes that are capable of correcting both data qubits and syndrome bits errors.
arxiv  

Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long‐term management

open access: yes
Clinical Endocrinology, Volume 101, Issue 5, Page 562-568, November 2024.
Adrian H. Heald   +4 more
wiley   +1 more source

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