Results 81 to 90 of about 13,220 (172)

Nouveautés radiologiques dans le dépistage et le diagnostic des erreurs innées du métabolisme [PDF]

, 2005
Les maladies héréditaires du métabolisme ont acquis une place de plus en plus importante dans la pathologie pédiatrique. Leur nombre ne cesse d’augmenter au fur et à mesure de la progression des connaissances en biologie cellulaire et des progrès ...
Boddaert, Nathalie, Brunelle, Francis, de Lonlay, Pascale, Mention, Karine, Nihoul-Fékété, Claire, Ribeiro, Maria, Touati, Guy, Valayanopoulos, Vassili   +7 more
core   +1 more source

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

Orphanet Journal of Rare Diseases, 2012
A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD).
Cheillan David, Curt Marie Joncquel-Chevalier, Briand Gilbert, Salomons Gajja S, Mention-Mulliez Karine, Dobbelaere Dries, Cuisset Jean-Marie, Lion-François Laurence, Portes Vincent Des, Chabli Allel, Valayannopoulos Vassili, Benoist Jean-François, Pinard Jean-Marc, Simard Gilles, Douay Olivier, Deiva Kumaran, Afenjar Alexandra, Héron Delphine, Rivier François, Chabrol Brigitte, Prieur Fabienne, Cartault François, Pitelet Gaëlle, Goldenberg Alice, Bekri Soumeya, Gerard Marion, Delorme Richard, Tardieu Marc, Porchet Nicole, Vianey-Saban Christine, Vamecq Joseph   +30 more
doaj   +1 more source

Impaired cardiac contractile function in arginine:glycine amidinotransferase knockout mice devoid of creatine is rescued by homoarginine but not creatine [PDF]

, 2017
Aims: Creatine buffers cellular adenosine triphosphate (ATP) via the creatine kinase reaction. Creatine levels are reduced in heart failure, but their contribution to pathophysiology is unclear.
Alfieri, Atzler, Atzler, Atzler, Atzler, Barbara Casadei, Benard, Bloch, Branovets, Brosnan, Chi-un Choe, Choe, Choe, Cox, Craig A Lygate, Cullen, Davids, Debra J McAndrew, Dirk Isbrandt, Dolinsky, Dorothee Atzler, Dunja Aksentijevic, Dzeja, Hannah J Whittington, Jillian N Simon, Jurgen E Schneider, Kaasik, Kan, Kan, Kiterie M E Faller, Korecky, Lorentzon, Lygate, Lygate, Marz, Mekhfi, Michiel ten Hove, Nabuurs, Neubauer, Neubauer, Neubauer, Nouioua, Pilz, Sevasti Zervou, Shoubridge, Sikkel, Stefan Neubauer, Stockebrand, ten Hove, Tian, Wiesner, Wyss, Zervou, Zugno, Zweier   +54 more
core   +4 more sources

Impaired brain glucose metabolism as a biomarker for evaluation of dodecyl creatine ester in creatine transporter deficiency: Insights from patient brain-derived organoids and in vivo [18F]FDG PET imaging in a mouse model

Neurobiology of Disease
Creatine transporter deficiency (CTD) is an inborn error of creatine (Cr) metabolism in which Cr is not properly distributed to the brain due to a mutation in the Cr transporter (CrT) SLC6A8 gene.
Clémence Disdier, Amélie Soyer, Léa Broca-Brisson, Sébastien Goutal, Anne-Cécile Guyot, Nora Ziani, Louise Breuil, Alexandra Winkeler, Gaëlle Hugon, Thomas Joudinaud, Henri Bénech, Jean Armengaud, Matthew R. Skelton, Rania Harati, Rifat A. Hamoudi, Nicolas Tournier, Aloïse Mabondzo   +16 more
doaj   +1 more source

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency

Orphanet Journal of Rare Diseases, 2012
Background SLC6A8, an X-linked gene, encodes the creatine transporter (CRTR) and its mutations lead to cerebral creatine (Cr) deficiency which results in mental retardation, speech and language delay, autistic-like behaviour and epilepsy (CRTR-D, OMIM ...
Chilosi Annamaria, Casarano Manuela, Comparini Alessandro, Battaglia Francesca, Mancardi Margherita, Schiaffino Cristina, Tosetti Michela, Leuzzi Vincenzo, Battini Roberta, Cioni Giovanni   +9 more
doaj   +1 more source

Coenzyme Q10 dose-escalation study in hemodialysis patients: safety, tolerability, and effect on oxidative stress. [PDF]

, 2015
BackgroundCoenzyme Q10 (CoQ10) supplementation improves mitochondrial coupling of respiration to oxidative phosphorylation, decreases superoxide production in endothelial cells, and may improve functional cardiac capacity in patients with congestive ...
Ahmad, Suhail, Billings, Frederic T, Claessens, Adam J, Himmelfarb, Jonathan, Ikizler, T Alp, Linke, Lori, Roshanravan, Baback, Shao, Baohai, Shen, Danny D, Sundell, Mary B, Yeung, Catherine K   +10 more
core   +2 more sources

Knock, knock, knocking on muscle doors. Visions of the transport of substrates across the plasma membrane in muscle [PDF]

, 2000
El múscul té un paper central en el metabolisme. Així, el múscul utilitza quantitats substancials de glucosa durant l'estat absortiu, i els canvis en la captació muscular de la glucosa provoquen alteracions en la utilització global de la glucosa per l ...
Fandos Espallargas, César, Palacín, Manuel, Zorzano, Antonio   +2 more
core  

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

Orphanet Journal of Rare Diseases, 2012
Systemic primary carnitine deficiency (CDSP) is an autosomal recessive disorder of carnitine transportation. The clinical manifestations of CDSP can vary widely with respect to age of onset, organ involvement, and severity of symptoms, but are typically ...
Magoulas Pilar L, El-Hattab Ayman W
doaj   +1 more source

Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder [PDF]

Indian Pediatrics, 2018
Abstract Background Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism. Case characteristics Two brothers with autism spectrum disorder were diagnosed with CTD at the ages of 17 and 12 years.
openaire   +2 more sources

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

Metabolic Brain Disease, 2018
To evaluate the outcome of current treatment for creatine transporter (CRTR) deficiency, we developed a clinical severity score and initiated an international treatment registry. An online questionnaire was completed by physicians following patients with CRTR deficiency on a treatment, including creatine and/or arginine, and/or glycine.
Bruun, Theodora U J, Sidky, Sarah, Bandeira, Anabela O, Debray, Francoise-Guillaume, Ficicioglu, Can, Goldstein, Jennifer, Joost, Kairit, Koeberl, Dwight D, Luísa, Diogo, Nassogne, Marie-Cécile, O'Sullivan, Siobhan, Õunap, Katrin, Schulze, Andreas, van Maldergem, Lionel, Salomons, Gajja S, Mercimek-Andrews, Saadet   +15 more
openaire   +6 more sources