Results 41 to 50 of about 1,686 (146)

An accurate stable isotope dilution gas chromatographic–mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency

, 1998
A gas chromatography-mass spectrometry (GC-MS) method is described for the quantification of guanidinoacetate in different body fluids, using a two step derivatisation procedure which involves a reaction with hexafluoroacetylacetone to form a bis ...
Struys, E. A., Verhoeven, N. M., N.M. Verhoeven, Van Der Knaap, M. S., Jakobs, C., E.A. Struys, C. Jakobs, H.J. ten Brink, M.S. van der Knaap, Ten Brink, H. J., E.E.W. Jansen, Jansen, E. E.W.   +11 more
core   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

The solute carrier SLC16A12 is critical for creatine and guanidinoacetate handling in the kidney [PDF]

, 2021
A heterozygous mutation (c.643C.A; p.Q215X) in the creatine transporter SLC16A12 was proposed to cause a syndrome with juvenile cataracts, microcornea and glucosuria in humans.
Mathis, Déborah, Lambert, Delphine, Escher, Geneviève, Fuster, Daniel G., Pathare, Ganesh, Verouti, Sophia N, Vogt, Bruno   +6 more
core   +1 more source

Guanidinoacetate–creatine in secondary progressive multiple sclerosis: a case report [PDF]

, 2022
Acute secondary progressive multiple sclerosis (SPMS) is characterized by escalating neurological disability, with limited disease-modifying therapeutic options.
Ostojic, Sergej, Zanini, Dragana, Jezdimirovic, Tatjana, Ostojic, Jelena, Stajer, Valdemar   +4 more
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Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis

, 2017
INTRODUCTION: Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders.
Wamelink, Mirjam M C, Struys, Eduard A, Jansen, Erwin E W, Erwin E. W. Jansen, Lisette M. Berends, Roos, Birthe, Eduard A. Struys, Gajja S. Salomons, Ulbe Holwerda, Mirjam M. C. Wamelink, Salomons, Gajja S, Birthe Roos, Holwerda, Ulbe, Berends, Lisette M   +13 more
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Focal epilepsy with sensory seizures associated with arginine:glycine amidinotransferase deficiency: A clinical and advanced magnetic resonance imaging study

Epilepsia, Volume 66, Issue 7, Page e136-e141, July 2025.
Abstract We aim to determine whether epilepsy can be considered part of the arginine:glycine amidinotransferase (AGAT) deficiency syndrome phenotype and to identify its associated electroclinical signatures. We reviewed clinical data from our center, identifying individuals with AGAT deficiency. Each individual underwent a dedicated epilepsy assessment
Francesco Fortunato, Roberta De Fiores, Ilaria Sammarra, Maria Celeste Bonacci, Maria Eugenia Caligiuri, Miriam Sturniolo, Iolanda Martino, Antonio Gambardella   +7 more
wiley   +1 more source

Role of a novel circRNA-CGNL1 in regulating pancreatic cancer progression via NUDT4–HDAC4–RUNX2–GAMT-mediated apoptosis

Molecular Cancer
Background Pancreatic cancer (PC) is an extremely malignant tumor with low survival rate. Effective biomarkers and therapeutic targets for PC are lacking.
Hao Yuan, Chuang Chen, Haonan Li, Gexi Qu, Luyao Chen, Yaxing Liu, Yufeng Zhang, Qiang Zhao, Changhong Lian, Aifang Ji, Xuedong Hou, Xinjian Liu, Kuirong Jiang, Yi Zhu, Yuan He   +14 more
doaj   +1 more source

SSRP1/SLC3A2 Axis in Arginine Transport: A New Target for Overcoming Immune Evasion and Tumor Progression in Peripheral T‐Cell Lymphoma

Advanced Science, Volume 12, Issue 21, June 5, 2025.
Enhanced arginine uptake is a critical feature of metabolic reprogramming in PTCL, characterized by elevated expression of the arginine transporter SLC3A2. SLC3A2‐mediated arginine uptake facilitates PTCL proliferation and survival by enhancing OXPHOS metabolism and inducing immune evasion.
Yimin Ren, Lei Fan, Ling Wang, Yanping Liu, Jie Zhang, Boya Wang, Ruize Chen, Xiao Chen, Lingyu Zhuang, Yaping Zhang, Handong Sun, Jianyong Li, Wenyu Shi, Hui Jin   +13 more
wiley   +1 more source

The reaction mechanism of phenylethanolamine N-methyltransferase : A density functional theory study

, 2009
Hybrid density functional theory methods were used to investigate the reaction mechanism of human phenylethanolamine N-methyltransferase (hPNMT). This enzyme catalyzes the S-adenosyl-L-methionine-dependent conversion of norepinephrine to epinephrine ...
Himo, Fahmi,, McLeish, Michael J.,, Georgieva, Polina, Georgieva, Polina,, McLeish, Michael J., Wu, Qian,, Wu, Qian   +6 more
core   +1 more source