X-chromosome inactivation in female patients with Fabry disease. - Wikidata - wikimedia - TriplyDB

X-chromosome inactivation in female patients with Fabry disease.

X-chromosome inactivation in female patients with Fabry disease.

http://www.wikidata.org/entity/Q51024877

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Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.Different renal phenotypes in related adult males with Fabry disease with the same classic genotype.Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant Determinants of white matter hyperintensity burden in patients with Fabry disease.Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development.Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin.LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease Relative distribution of Gb3 isoforms/analogs in NOD/SCID/Fabry mice tissues determined by tandem mass spectrometry.Fabry disease and incidence of cancer Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics Trends of long noncoding RNA research from 2007 to 2016: a bibliometric analysis.Lipid biomarkers for the peroxisomal and lysosomal disorders: their formation, metabolism and measurement.Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders.Pathomechanisms of renal Fabry disease.Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy.Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.Genetic Infiltrative Cardiomyopathies.Clinical utility gene card for: Fabry disease - update 2016.Major Organic Involvement in Women with Fabry Disease in Argentina.Anderson-Fabry disease in heart failure Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY

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P2860

X-chromosome inactivation in female patients with Fabry disease.

http://www.wikidata.org/entity/Q51024877

description

2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年學術文章

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2015年學術文章

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name

X-chromosome inactivation in female patients with Fabry disease.

@en

X-chromosome inactivation in female patients with Fabry disease.

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type

label

X-chromosome inactivation in female patients with Fabry disease.

@en

X-chromosome inactivation in female patients with Fabry disease.

@nl

prefLabel

X-chromosome inactivation in female patients with Fabry disease.

@en

X-chromosome inactivation in female patients with Fabry disease.

@nl

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Clinical Genetics

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X-chromosome inactivation in female patients with Fabry disease.

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A Toussaint

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C Beldjord

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F Jabbour

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P2860

The normal human female as a mosaic of X-chromosome activity: studies using the gene for C-6-PD-deficiency as a marker

Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease

A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser

Inheritance of most X-linked traits is not dominant or recessive, just X-linked

Gene action in the X-chromosome of the mouse (Mus musculus L.)

Comparison of X-chromosome inactivation patterns in multiple tissues from human females.

The causes and consequences of random and non-random X chromosome inactivation in humans.

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.

Signals from the lysosome: a control centre for cellular clearance and energy metabolism.

Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation.

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10.1111/CGE.12613

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1

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89

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Dominique Eladari

Dominique P Germain

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