Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.
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Creatine deficiency syndromes and the importance of creatine synthesis in the brainCyclocreatine treatment improves cognition in mice with creatine transporter deficiencyInborn errors of creatine metabolism and epilepsy.A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism.Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD databaseHybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.Simultaneous assay of isotopic enrichment and concentration of guanidinoacetate and creatine by gas chromatography-mass spectrometry.Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsCreatine transporter deficiency in two adult patients with static encephalopathy.A Japanese adult case of guanidinoacetate methyltransferase deficiency.Transport characteristics of guanidino compounds at the blood-brain barrier and blood-cerebrospinal fluid barrier: relevance to neural disorders.Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers.X-linked creatine transporter deficiency: clinical aspects and pathophysiology.Guanidinoacetic acid as a performance-enhancing agent.A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes.Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.Guanidinoacetic Acid and Creatine are Associated with Cardiometabolic Risk Factors in Healthy Men and Women: A Cross-Sectional Study.The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.Clinical features and X-inactivation in females heterozygous for creatine transporter defect.Defining the pathogenicity of creatine deficiency syndrome.Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.
P2860
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P2860
Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
Creatine and guanidinoacetate: ...... ne biosynthesis and transport.
@en
Creatine and guanidinoacetate: ...... ne biosynthesis and transport.
@nl
type
label
Creatine and guanidinoacetate: ...... ne biosynthesis and transport.
@en
Creatine and guanidinoacetate: ...... ne biosynthesis and transport.
@nl
prefLabel
Creatine and guanidinoacetate: ...... ne biosynthesis and transport.
@en
Creatine and guanidinoacetate: ...... ne biosynthesis and transport.
@nl
P2093
P50
P1476
Creatine and guanidinoacetate: ...... ine biosynthesis and transport
@en
P2093
Birthe Roos
Cornelis Jakobs
Gajja S Salomons
Laura Vilarinho
Nanda M Verhoeven
P304
P356
10.1016/J.YMGME.2004.05.001
P577
2004-07-01T00:00:00Z