Results 41 to 50 of about 4,477 (107)
Journal of Family Theory &Review, Volume 16, Issue 2, Page 329-351, June 2024.Abstract This conceptual review paper takes an interdisciplinary approach to the study of self‐injury in families. The overall goal is to begin integrating siloed bodies of knowledge from empirical work based on findings from individuals with and without intellectual and developmental disabilities and self‐injury. The research literature on self‐injury
Caroline L. Roberts, Frank Symons
wiley +1 more source
JIMD 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]
, 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
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Electrochemical biosensors and power supplies for wearable health‐managing textile systems
Interdisciplinary 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
Emerging Role of Purine Metabolizing Enzymes in Brain Function and Tumors [PDF]
, 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
Clinical Endocrinology, Volume 101, Issue 5, Page 562-568, November 2024.
Adrian H. Heald +4 more
wiley +1 more source
Which neurodevelopmental disorders get researched and why? [PDF]
, 2010 AIM: There are substantial differences in the amount of research concerned with different disorders. This paper considers why. METHODS: Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental ...
Bishop, Dorothy
core +5 more sources
Lesch-Nyhan syndrome: a case report. [PDF]
J Korean Assoc Oral Maxillofac Surg, 2023 Park HI, Kim GH, Ahn KM.
europepmc +1 more source
The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome. [PDF]
Maedica (Bucur), 2023 Roza E, Baloi AD, Plaiasu V, Teleanu RI.
europepmc +1 more source
Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes? [PDF]
, 2013 Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the
Aggarwal, A +9 more
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