Results 41 to 50 of about 350 (155)

Cerebral Creatine Deficiency Syndromes [PDF]

, 2012
Introduction: Creatine deficiency syndromes are a recently described group of diseases characterized by inborn errors of creatine metabolism. Clinical features include a spectrum of neurodevelopment disorders of diverse severity.
Diogo, L, Oliveira, G, Fineza, I, Garcia, P, Malheiro, R   +4 more
core  

NAC and Vitamin D Improve CNS and Plasma Oxidative Stress in Neonatal HIE and Are Associated with Favorable Long-Term Outcomes

Antioxidants, 2021
N-acetylcysteine (NAC) and vitamin D provide effective neuroprotection in animal models of severe or inflammation-sensitized hypoxic ischemic encephalopathy (HIE).
Dorothea D Jenkins, Hunter G Moss, Truman R Brown, Milad Yazdani, Sudhin Thayyil, Paolo Montaldo, Maximo Vento, Julia Kuligowski, Carol Wagner, Bruce W Hollis, Donald B Wiest   +10 more
doaj   +1 more source

Glycine and l-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients [PDF]

, 2011
Our aim was to monitor folate status in five creatine transporter deficient (CRTR) patients undergoing glycine/L-arginine (Gly/Arg) therapy after the finding of severe hyperhomocysteinemia in one of these cases.Five male patients (age range: 12-20; median = 13 years) genetically confirmed of CRTR deficiency, who were treated with oral glycine (200 mg ...
Cristina, Villar, Jaume, Campistol, Carmen, Fons, Judith, Armstrong, Anna, Mas, Aida, Ormazabal, Rafael, Artuch   +6 more
openaire   +2 more sources

Novel guanidinoacetate methyltransferase (GAMT) mutation associated with cerebral creatine deficiency syndrome in a Syrian child: a case report

Annals of Medicine & Surgery, 2023
Introduction: Guanidinoacetate methyltransferase (GAMT) deficiency, also known as cerebral creatine deficiency syndrome type 2 (CCDS2), is an uncommon disease caused by an innate genetic defect in the metabolic pathway of creatine inherited in an autosomal recessive manner.
Dima Alhomsi, Dania Abdalsalam, Rama Sulaiman, Sameer Bakleh, Diana Alasmar   +4 more
openaire   +2 more sources

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging [PDF]

, 2016
Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and autistic-like ...
MOLINARO, ANGELO, Baroncelli, L, Cacciante, F, Napoli, Debora, Cioni, G, CIONI, GIOVANNI, Baroncelli, Laura, Cacciante, Francesco, Pizzorusso, T., Tola, Jonida, Napoli, D, Alessandrì, Maria Grazia, Tola, J, Molinaro, A, Alessandrì, Mg, Leuzzi, Vincenzo, Putignano, Elena, Pizzorusso, Tommaso, Putignano, E   +18 more
core   +1 more source

Development of a core outcome set for the evaluation of treatments for Guanidinoacetate Methyltransferase (GAMT) Deficiency: A Rapid Review

, 2022
This is a rapid review regarding the outcomes and symptoms associated with GAMT deficiency reported in the literature, with the goal of developing a list of core outcome sets for treatment of cerebral creatine deficiencies (in conjunction with another ...
Delia Apatean, Zahra Nasseri Moghaddam, Sylvia Stockler, Jia Yi Li   +3 more
core   +4 more sources

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Cerebral creatine deficiency syndromes: 13 years experience in Portugal [PDF]

, 2017
Os síndromes da deficiência em creatina cerebral são um grupo de erros inatos do metabolismo da creatina que incluem as deficiências de síntese da creatina: arginina:glicina amidinotransferase (AGAT) e S-adenosil- L-metionina:guanidinoacetato ...
Lopes, Altina, Vilarinho, Laura, Valongo, Carla   +2 more
core  

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source