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Guanidinoacetate methyltransferase deficiency
Known as:
GAMT DEFICIENCY
, CEREBRAL CREATINE DEFICIENCY SYNDROME 2
, CCDS2
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National Institutes of Health
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Related topics
Related topics
7 relations
Ataxia
Autosomal recessive inheritance
Mental Retardation
Myoclonus
Broader (3)
Guanidinoacetate N-Methyltransferase
Language Development Disorders
Movement Disorders
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
4CPS-188 Galenic preparations and rare diseases: guanidinoacetate methyltransferase deficiency: experience in a local hospital
L. Gambitta
,
E. Togliardi
,
+4 authors
D. Di Benedetto
Section 4: Clinical Pharmacy Services
2019
Corpus ID: 149941799
Background Guanidinoacetate methyltransferase (GAMT) deficiency is a rare disorder (prevalence <1/1,000,000), inherited as…
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Review
2018
Review
2018
Highlights from this issue
G. Fuller
,
P. Smith
Practical Neurology
2018
Corpus ID: 21736863
Simple solutions work. A plumber who unblocks a pipe can make the water run again. A neurointerventionist who pulls the clot from…
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2017
2017
Highlights from this issue
G. Fuller
,
Phillip E M Smith
Thorax
2017
Corpus ID: 44882805
Triaging pregnant women Pregnant women presenting to the emergency department (ED) pose specific challenges to the triage nurse…
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2017
2017
Highlights from this issue
K. Barton
,
J. Chodosh
,
J. Jonas
British Journal of Ophthalmology
2017
Corpus ID: 22143139
Zinkernagel et al (see page 160) This study evaluated the individual retinal thickness changes in acute macular neuroretinopathy…
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2016
2016
Highlights from this issue
Phillip E M Smith
,
G. Fuller
Practical Neurology
2016
Corpus ID: 41398942
Sethi et al have used a ‘before and after’ study design to retrospectively assess the effect on Emergency Department Clinical…
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2010
2010
A novel explanation for potential toxic effects of valproic acid on creatine: implications for autism.
A. Ghanizadeh
Molecular Genetics and Metabolism
2010
Corpus ID: 28062841
Review
2010
Review
2010
Review article Guanidinoacetate methyltransferase deficiency (GAMT)
N. Gordon
2010
Corpus ID: 80626156
An increasing number of disorders of metabolism are becoming amenable to the treatment, and GAMT deficiency is one of them. The…
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2010
2010
GAMT-deficiëntie: een behandelbare stoornis in de creatinestofwisseling
B.J.G. Dam
,
F. C. Hofstede
,
B. Prinsen
,
G. S. Salomons
,
G. Visser
2010
Corpus ID: 57080368
SamenvattingDeficiëntie van guanidinoacetaatmethyltransferase (GAMT) is een relatief recent ontdekte aangeboren…
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2002
2002
Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency.
C. Item
,
C. Stromberger
,
+8 authors
S. Stöckler‐Ipsiroglu
Clinical Chemistry
2002
Corpus ID: 29902768
Guanidinoacetate methyltransferase [(GAMT); EC 2.1.1.2] deficiency is the first recognized inborn error of creatine biosynthesis…
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2000
2000
Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency
A. Das
,
K. Ullrich
,
D. Isbrandt
Journal of Inherited Metabolic Disease
2000
Corpus ID: 11409238
1Department of Paediatrics and 2Centre for Molecular Neurobiology University ofHamburg, Martinistr. 52, D-20246 Hamburg, Germany…
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