Results 91 to 100 of about 36,711 (394)

Treatment of inborn errors of metabolism [PDF]

Molecular Cytogenetics, 2014
Inborn errors of metabolism (IEM), though individually rare are collectively common. Average incidence of 50+ common IEMs is considered to be approx 1 in 1,000 live births. With annual birth rate of approximately 25 million babies in India, we can expect at least 25,000 babies being born with IEM in India and hence it is a significant burden to the ...
openaire   +3 more sources

The neuropsychiatry of inborn errors of metabolism [PDF]

Journal of Inherited Metabolic Disease, 2013
AbstractA number of metabolic disorders that affect the central nervous system can present in childhood, adolescence or adulthood as a phenocopy of a major psychiatric syndrome such as psychosis, depression, anxiety or mania. An understanding and awareness of secondary syndromes in metabolic disorders is of great importance as it can lead to the early ...
Ramon Mocellin, Ramon Mocellin, Mark Walterfang, Olivier Bonnot, Dennis Velakoulis, Dennis Velakoulis   +5 more
openaire   +4 more sources

Serum cytokine profiling differentiates underlying diseases in cytokine storm syndrome

Arthritis &Rheumatology, Accepted Article.
Objective Cytokine storm syndrome (CSS), commonly associated with hemophagocytic lymphohistiocytosis (HLH), is a fatal hyperinflammatory syndrome. Differentiating the underlying diseases responsible for CSS is essential for timely therapeutic decisions. This study explored the clinical usefulness of serum cytokine profiling in distinguishing underlying
Shuya Kaneko, Maho Hatano, Asami Shimbo, Futaba Miyaoka, Hitoshi Irabu, Yuko Akutsu, Yuko Hayashi, Mao Mizuta, Yasuo Nakagishi, Keiji Akamine, Naomi Iwata, Kenji Furuno, Takayuki Tanaka, Kazuyuki Ueno, Shuhei Fujita, Koji Yokoyama, Toshinori Minato, Kazushi Izawa, Takahiro Yasumi, Tadashi Matsubayashi, Tadashi Hosoya, Hiroki Nishikawa, Junya Fujimura, Ryoko Asano, Yuko Sugita, Kenichi Watanabe, Anna Kobayashi, Takuya Endo, Katsuhide Eguchi, Ryuta Nishikomori, Ryuhei Yasuoka, Takaki Asano, Miyako Kanno, Kazuya Hamada, Yuji Fujita, Daisuke Hayashi, Shojiro Watanabe, Takeshi Shiba, Shinsuke Yasuda, Masaaki Mori, Hirokazu Kanegane, Masatoshi Takagi, Masaki Shimizu   +42 more
wiley   +1 more source

Defective Ribosome Recycling: A Bridge Between Translation Fidelity, Organelle Dysfunction, and Diseases

BioEssays, EarlyView.
The Role of Ribosome Recycling in Human Diseases This diagram highlights how disruptions in ribosome translation and recycling can negatively impact cellular and organismal health. Usually, these processes operate efficiently to maintain cellular protein homeostasis.
Foozhan Tahmasebinia, Zhihao Wu
wiley   +1 more source

Tandem Mass Neonatal Screening in Taiwan—Report from One Center

Journal of the Formosan Medical Association, 2006
Neonatal screening using tandem mass spectrometry (MS/MS) started in Taiwan in 2000. We evaluated the efficacy of this system by analyzing the frequency of diseases and the outcome of the patients identified.
Hsiang-Po Huang, Kai-Lin Chu, Yin-Hsiu Chien, Ming-Lee Wei, Shu-Tzu Wu, Shiao-Fang Wang, Wuh-Liang Hwu   +6 more
doaj   +1 more source

Increased Extra‐Axial Cerebrospinal Fluid Volume in Children With Angelman Syndrome: Links to Sleep Problems and Seizures

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Previous studies demonstrated that children with autism have enlarged volumes of extra‐axial cerebrospinal fluid (EA‐CSF) and an increased ratio of EA‐CSF to brain volume, indicating that EA‐CSF is disproportionally increased beyond macrocephaly often observed in autism.
Zumin Chen, Dea Garic, Yinuo Xu, Rachel G. Smith, Leigh Anne H. Weisenfeld, Sun Hyung Kim, Martin A. Styner, Joseph Piven, Benjamin D. Philpot, Heather C. Hazlett, Mark D. Shen   +10 more
wiley   +1 more source

INBORN ERRORS OF METABOLISM

Nutrition Reviews, 2009
Abstract Understanding metabolic disease can be difficult in its own right. Under stressful situations such as those involving a sick infant, it becomes much more difficult. This resource is a talk whose purpose is to provide a simple framework with which to expeditiously diagnose a sick child who has a metabolic disorder.
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Cytochrome P450 2D6 *17 and *29 Allele Activity for Risperidone Metabolism: Advancing Precision Medicine Health Equity

Clinical Pharmacology &Therapeutics, EarlyView.
CYP2D6 alleles with low frequency in Eurocentrically biased study populations are often excluded from pharmacogenetic investigation and consequently may have misassigned activity values. This health inequity may be contributing to imprecise dose predictions for CYP2D6‐metabolizing drugs.
Oyinlade Kehinde, Samuel E. Vaughn, Ogochukwu Amaeze, Paul Toren, Brandon Retke, Akinyemi Oni‐Orisan, Laura B. Ramsey   +6 more
wiley   +1 more source

Dysmorphology of inborn errors of metabolism [PDF]

Molecular Cytogenetics, 2014
As we discover the molecular mechanism of disorders, eventually all dysmorphic syndromes will ultimately be considered biochemical defects. An overview on the recognition and classification of dysmorphic features will be provided. Categories of inborn errors of metabolism associated with dysmorphic manifestations will be discussed. For e.g.
openaire   +3 more sources

Metabolic abnormalities and reprogramming in cats with naturally occurring hypertrophic cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 1256-1270, April 2025.
Abstract Background and aims The heart is a metabolic organ rich in mitochondria. The failing heart reprograms to utilize different energy substrates, which increase its oxygen consumption. These adaptive changes contribute to increased oxidative stress.
Qinghong Li, Max Homilius, Erin Achilles, Laura K. Massey, Victoria Convey, Åsa Ohlsson, Ingrid Ljungvall, Jens Häggström, Brittany Vester Boler, Pascal Steiner, Sharlene Day, Calum A. MacRae, Mark A. Oyama   +12 more
wiley   +1 more source