Results 61 to 70 of about 13,220 (172)
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review [PDF]
, 2018 Summary: Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain, as measured by magnetic resonance spectroscopy.
Braissant, O., Henry, H.
core
Hyperammonemia-induced toxicity for the developing central nervous system [PDF]
, 2007 In pediatric patients, hyperammonemia can be caused by various acquired or inherited disorders such as urea cycle deficiencies or organic acidemias. The brain is much more susceptible to the deleterious effects of ammonium during development than in ...
Braissant, O., Cagnon, L.
core +1 more source
Screening for creatine transporter deficiency in autism spectrum disorder: a pilot study
Türk Biyokimya DergisiInvestigation of inherited metabolic disorders in autism spectrum disorder (ASD) is a matter of debate. X-linked creatine transporter deficiency is among the metabolic disorders which may present predominantly with features of ASD and intellectual ...
Arslan Mutluay +5 more
doaj +1 more source
Creatine deficiency syndromes and the importance of creatine synthesis in the brain [PDF]
, 2018 Creatine deficiency syndromes, due to deficiencies in AGAT, GAMT (creatine synthesis pathway) or SLC6A8 (creatine transporter), lead to complete absence or very strong decrease of creatine in CNS as measured by magnetic resonance spectroscopy.
Braissant, Olivier +3 more
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Movement Disorders Presenting in Childhood. [PDF]
, 2016 PURPOSE OF REVIEW: This article provides an overview of movement disorders that present in childhood. Key clinical features are discussed, and a brief guide to management strategies is provided.
Dale, RC, Kurian, MA
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Scientific Reports, 2023 Cellular homeostasis of creatine (CT), integral part of the energy buffering and transducing system connecting intracellular sites of ATP production and utilization, comprises of mechanisms that increase CT, i.e., biosynthesis and cellular uptake, and CT-
Michael B. Tropak +4 more
doaj +1 more source
X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8
Annals of Neurology, 2002 AbstractAmong creatine deficiency syndromes, an X‐linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a ...
Bizzi, A. +8 more
openaire +3 more sources
F1000Research, 2015 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 behavioral ...
Laura Baroncelli +10 more
doaj +1 more source
BMC Genomics, 2023 Background Approximately 4–8% of the world suffers from a rare disease. Rare diseases are often difficult to diagnose, and many do not have approved therapies.
Erica L. Lyons +9 more
doaj +1 more source
Metabogenic and Nutriceutical Approaches to Address Energy Dysregulation and Skeletal Muscle Wasting in Duchenne Muscular Dystrophy [PDF]
, 2015 Duchenne Muscular Dystrophy (DMD) is a fatal genetic muscle wasting disease with no current cure. A prominent, yet poorly treated feature of dystrophic muscle is the dysregulation of energy homeostasis which may be associated with intrinsic defects in ...
Cooke, Matthew +4 more
core +2 more sources