fabry disease genereviews | Fabry Disease - GeneReviews®

Keyword	CPC	PCC	Volume	Score	Length of keyword
fabry disease genereviews	1.8	0.5	7707	27	25
fabry	0.42	0.1	5405	4	5
disease	0.36	0.8	133	41	7
genereviews	1.1	0.6	1731	64	11

Keyword	CPC	PCC	Volume	Score
fabry disease genereviews	0.02	1	8169	41
fabry disease gene review	0.34	1	5453	60
fabry disease review article	1.28	0.8	1132	14
gene for fabry disease	1.86	0.2	4229	12
fabry disease gene mutation	0.49	0.1	6193	18
fabry disease genetic testing	1.01	0.2	9789	67
fabry disease gene therapy	0.25	0.4	7026	35
fabry disease lab test	0.3	0.3	7228	78
fabry s disease diagnosis	0.52	0.4	1635	86
is fabry disease inherited	1.61	0.9	6941	15
is fabry disease x linked	1.69	0.2	4847	58
how to diagnose fabry disease	1.15	0.1	5862	23
what is fabry disease	1.95	0.6	9169	97
fabry's disease biological correlates	0.45	0.2	4071	41

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Fabry Disease - GeneReviews® - NCBI Bookshelf
nih.gov

https://www.ncbi.nlm.nih.gov/books/NBK1292/

WEBAug 5, 2002 · Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (α-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body.

DA: 78 PA: 76 MOZ Rank: 99

Fabry Disease - StatPearls - NCBI Bookshelf
nih.gov

https://www.ncbi.nlm.nih.gov/books/NBK435996/

WEBJul 4, 2023 · Fabry disease is a multi-systemic, X-linked lysosomal storage disease caused by decreased activity of alpha-galactosidase A and results in lysosomal accumulations of neutral glycosphingolipids and globotriaosylceramide GL-3.

DA: 15 PA: 78 MOZ Rank: 21

Diagnosis and Screening of Patients with Fabry Disease - PMC
nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7319521/

WEBJun 22, 2020 · Screening of high-risk populations (eg, patients with unexplained left ventricular hypertrophy (LVH), young patients with unexplained stroke, and patients with unexplained renal failure proteinuria or microalbuminuria) yields good results. The diagnostic algorithm is gender-specific.

DA: 96 PA: 5 MOZ Rank: 55

Fabry disease: Guidelines for the evaluation and management of …
nature.com

https://www.nature.com/articles/gim200691

WEBSep 1, 2006 · Fabry disease is an X-linked metabolic storage disorder due to the deficiency of lysosomal α-galactosidase A, and the subsequent accumulation of glycosphingolipids, primarily...

DA: 70 PA: 43 MOZ Rank: 51

Fabry disease: MedlinePlus Genetics
medlineplus.gov

https://medlineplus.gov/genetics/condition/fabry-disease/

WEBFabry disease is an inherited disorder that results from the buildup of a type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet ...

DA: 87 PA: 6 MOZ Rank: 46

Fabry Disease Practice Guidelines ... - Wiley Online Library
wiley.com

https://onlinelibrary.wiley.com/doi/10.1007/s10897-013-9613-3

WEBJul 17, 2013 · PDF. Tools. Share. Abstract. Identification and comprehensive care of individuals who have Fabry disease (FD) requires a multidisciplinary approach inclusive of genetic testing, test interpretation, genetic counseling, long term disease symptom monitoring, treatment recommendations, and coordination of therapy.

DA: 52 PA: 98 MOZ Rank: 7

Fabry disease in infancy and early childhood: a systematic
nature.com

https://www.nature.com/articles/gim2014120

WEBSep 18, 2014 · Fabry disease (OMIM 301500) is a panethnic, X-linked, multisystemic, progressive lysosomal storage disorder caused by mutations in the GLA gene. These mutations result in decreased or deficient...

DA: 65 PA: 29 MOZ Rank: 2

Fabry Disease Practice Guidelines: Recommendations of the …
wiley.com

https://onlinelibrary.wiley.com/doi/epdf/10.1007/s10897-013-9613-3

WEBIdentification and comprehensive care of individuals who have Fabry disease (FD) requires a multidisciplinary ap-proach inclusive of genetic testing, test interpretation, genetic counseling, long term disease symptom monitoring, treatment recommendations, and coordination of therapy.

DA: 37 PA: 84 MOZ Rank: 90

Is it Fabry disease? | Genetics in Medicine - Nature
nature.com

https://www.nature.com/articles/gim201655

WEBMay 19, 2016 · Fabry disease is caused by mutations in the GLA gene that lower α-galactosidase A activity to less than 25–30% of the mean normal level. Several GLA variants have been identified that are...

DA: 26 PA: 4 MOZ Rank: 92

Fabry disease revisited: Management and treatment ... - PubMed
nih.gov

https://pubmed.ncbi.nlm.nih.gov/29530533/

WEBPMID: 29530533. DOI: 10.1016/j.ymgme.2018.02.014. Abstract. Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and …

DA: 33 PA: 82 MOZ Rank: 13