Results 61 to 70 of about 19,497 (183)

Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency

Molecular Genetics and Metabolism Reports, 2023
The pyruvate dehydrogenase complex serves as the main connection between cytosolic glycolysis and the tricarboxylic acid cycle within mitochondria. An infant with pyruvate dehydrogenase complex deficiency was treated with vitamin B1 supplementation and a
Eri Ogawa, Takako Hishiki, Noriyo Hayakawa, Hisato Suzuki, Kenjiro Kosaki, Makoto Suematsu, Toshiki Takenouchi   +6 more
doaj  

Inborn errors of sulfur-containing amino acid metabolism.

Journal of NutriLife, 2006
Two superimposed metabolic sequences, transsulfuration and the methionine/homocysteine cycle, form the pathway for methionine metabolism in mammalian liver.
J. Finkelstein
semanticscholar   +1 more source

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning [PDF]

, 2014
Background: Inborn errors of metabolism (IEM) form an important cause of movement disorders in children. The impact of metabolic diseases and concordant movement disorders upon children's health-related quality of life (HRQOL) and its physical and ...
Peall, Kathryn
core   +1 more source

Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry

International Journal of Neonatal Screening, 2021
The Quebec Neonatal Urine Screening Program was initiated in 1971 with overall screening inception of newborns in 1973. Forty-seven years later, over 3.5 million babies have been screened for up to 25 inborn errors of metabolism divided into two groups: (
Christiane Auray-Blais, Michel Boutin, Pamela Lavoie, Bruno Maranda   +3 more
doaj   +1 more source

Integration of Genome-Wide SNP Data and Gene-Expression Profiles Reveals Six Novel Loci and Regulatory Mechanisms for Amino Acids and Acylcarnitines in Whole Blood. [PDF]

PLoS Genetics, 2015
Profiling amino acids and acylcarnitines in whole blood spots is a powerful tool in the laboratory diagnosis of several inborn errors of metabolism. Emerging data suggests that altered blood levels of amino acids and acylcarnitines are also associated ...
Ralph Burkhardt, Holger Kirsten, Frank Beutner, Lesca M Holdt, Arnd Gross, Andrej Teren, Anke Tönjes, Susen Becker, Knut Krohn, Peter Kovacs, Michael Stumvoll, Daniel Teupser, Joachim Thiery, Uta Ceglarek, Markus Scholz   +14 more
doaj   +1 more source

Opening the toolbox of alternative sampling strategies in clinical routine : a key-role for (LC-)MS/MS [PDF]

, 2016
A
Capiau, Sara, Stove, Christophe, Velghe, Sofie   +2 more
core   +2 more sources

Arteriovenous Blood Metabolomics: A Readout of Intra-Tissue Metabostasis. [PDF]

, 2015
The human circulatory system consists of arterial blood that delivers nutrients to tissues, and venous blood that removes the metabolic by-products. Although it is well established that arterial blood generally has higher concentrations of glucose and ...
Averell, Patricia M, Deguchi, Hiroshi, Elias, Darlene, Griffin, John, Ivanisevic, Julijana, Jain, Mohit, Johnson, Caroline H, Kurczy, Michael, Patti, Gary J, Siuzdak, Gary, Tautenhahn, Ralf, Watrous, Jeramie, Zhu, Zhengjiang   +12 more
core   +2 more sources

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

Cell Reports, 2015
A decline in mitochondrial respiration represents the root cause of a large number of inborn errors of metabolism. It is also associated with common age-associated diseases and the aging process.
Julie Thompson Legault, Laura Strittmatter, Jessica Tardif, Rohit Sharma, Vanessa Tremblay-Vaillancourt, Chantale Aubut, Gabrielle Boucher, Clary B. Clish, Denis Cyr, Caroline Daneault, Paula J. Waters, Azadeh Aliskashani, Bruce G. Allen, Chantale Aubut, Claudine Beauchamp, Chantal Bemeur, Yan Burelle, Guy Charron, Lise Coderre, Christine Des Rosiers, Sonia Deschênes, François Labarthe, Jeannine Landry, Catherine Laprise, Geneviève Lavallée, Pierre Lavoie, Bruno Maranda, Charles Morin, Yvette Mukaneza, Tamiko Nishimura, John D. Rioux, Marie-Ève Rivard, Florin Sasarman, Eric A. Shoubridge, Jessica Tardif, Julie Thompson Legault, Nancy Tremblay, Vanessa Tremblay-Vaillancourt, Luc Vachon, Josée Villeneuve   +39 more
doaj   +1 more source

A 3-Step Process to Estimate Phenylalanine in Commercial Foods for PKU Management

IEEE Access, 2018
Phenylalanine (Phe) is a key nutrient in the dietary management of the metabolic disease phenylketonuria (PKU). To give more freedom to PKU patients, we propose a numerical process to estimate the Phe content of a commercial food using the information ...
Jieun Kim, Amruthavarshini Talikoti, Mireille Boutin   +2 more
doaj   +1 more source

Spectrum of Organic Aciduria Diseases in Tunisia: A 35-year Retrospective Study

Saudi Journal of Medicine and Medical Sciences
Background: Organic aciduria diseases (OADs) occur worldwide, with differences in prevalence and patterns between populations. Objectives: To describe the spectrum of OADs identified in Tunisia over a 35-years period.
Awatef Jelassi, Fahmi Nasrallah, Emna Talbi, Mohamed Bassem Hammami, Rihab Ghodbane , Haifa Sanhaji , Moncef Feki, Naziha Kaabachi, Sameh Hadj-Taieb   +8 more
doaj   +1 more source