[…] angiokeratoma FD Gla Deficiency FABRY DISEASE edit English Fabry disease human disease Fabry's disease Anderson-Fabry disease angiokeratoma corporis diffusum alpha-galactosidase
[wikidata.org]
Fabry Disease (FD) is a genetic disorder caused by alpha-galactosidase A deficiency.
[ncbi.nlm.nih.gov]
Fabry disease Other names Fabry's disease, Anderson–Fabry disease, angiokeratoma corporis diffusum, alpha-galactosidase A deficiency Alpha galactosidase - the deficient protein
[en.wikipedia.org]
deficiency adult onset Alpha-Galactosidase B Deficiency Alpha-N-Acetylgalactosaminidase Deficiency, Type I Schindler Disease, Type II Alpha-Naga Deficiency Galb Deficiency
[purl.bioontology.org]
alpha-galactosidase B deficiency alpha-galNAc deficiency, Schindler type alpha N-acetylgalactosaminidase deficiency alpha-NAGA deficiency angiokeratome corporis diffusum-glycopeptiduria
[ldnz.org.nz]
deficiency, type 1 Schindler Disease NAGA Deficiency, Type II NAGA deficiency type 2 Kanzaki disease alpha-N-Acetylgalactosaminidase Deficiency, Type II Alpha-N-acetylgalactosaminidase
[purl.bioontology.org]
deficiency adult onset Alpha-Galactosidase B Deficiency Alpha-N-Acetylgalactosaminidase Deficiency, Type I Schindler Disease, Type II Alpha-Naga Deficiency Galb Deficiency
[purl.bioontology.org]
alpha-galactosidase B deficiency alpha-galNAc deficiency, Schindler type alpha N-acetylgalactosaminidase deficiency alpha-NAGA deficiency angiokeratome corporis diffusum-glycopeptiduria
[ismrd.org]
Also known as: alpha-galactosidase B deficiency alpha-galNAc deficiency, Schindler type alpha-N-acetylgalactosaminidase deficiency alpha-NAGA deficiency angiokeratoma corporis
[wiki.ggc.usg.edu]
Galactosialidosis (GS) is an autosomal recessive condition caused by combined deficiency of the lysosomal enzymes beta-galactosidase and alpha-neuraminidase.
[ncbi.nlm.nih.gov]
Galactosialidosis is a rare lysosomal storage disease associated with deficiencies of alpha-galactosidase and beta-neurominidase.
[ncbi.nlm.nih.gov]
The nature of the accumulated compounds is in accordance with the alpha-neuraminidase deficiency in both genetic diseases.
[ncbi.nlm.nih.gov]
OMIM (Online Mendelian Inheritance in Man database) reference number: 301500 Synonyms: Anderson-Fabry Disease, alpha - galactosidase A deficiency, angiokeratoma corporis diffusum
[lymphedemapeople.com]
Levin syndrome Short rib-polydactyly syndrome type 4 Early-onset zonular cataract Osteopetrosis autosomal recessive 5 Orofaciodigital syndrome 9 Chromosome 18p tetrasomy Fabry
[checkrare.com]
See: Aarskog syndrome Alpha-Galactosidase B deficiency (Galb) or N-Acetyl-Alpha-D-Galactosaminidase deficiency (NAGA).
[lymphedemapeople.com]
Angiokeratoma corporis diffusum is often a cutaneous manifestation of hereditary enzymatic disorders of metabolism, including Fabry's disease (X-linked recessive alpha-galactosidase
[dermatologyadvisor.com]
Angiokeratoma corporis diffusum is often a cutaneous manifestation of hereditary enzymatic disorders of metabolism, including Fabry’s disease (X-linked recessive alpha-galactosidase
[dermatologyadvisor.com]
Other Names for This Condition Alpha-galactosidase B deficiency Alpha-galNAc deficiency, Schindler type Alpha-N-acetylgalactosaminidase deficiency Alpha-NAGA deficiency Angiokeratoma
[medlineplus.gov]
[…] activity of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B).
[rarediseases.org]
diseases, or very infrequently (1 in 100,000 to 200,000 live births) for most of these disorders, which may be the case for alpha-N-acetylgalactosaminidase deficiency.
[rarediseases.org]
Fabry disease: alpha-galactosidase A deficiency (angiokeratoma corporis diffusum universale). In Freedberg IM, et al., eds. Dermatology in General Medicine. 6th ed.
[escholarship.org]
Fabry disease MedGen UID: 8083 •Concept ID: C0002986 • Disease or Syndrome Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity
[ncbi.nlm.nih.gov]
deficiency adult onset Alpha-Galactosidase B Deficiency Alpha-N-Acetylgalactosaminidase Deficiency, Type I Schindler Disease, Type II Alpha-Naga Deficiency Galb Deficiency
[purl.bioontology.org]
alpha-galactosidase B deficiency alpha-galNAc deficiency, Schindler type alpha N-acetylgalactosaminidase deficiency alpha-NAGA deficiency angiokeratome corporis diffusum-glycopeptiduria
[ldnz.org.nz]
deficiency, type 1 Schindler Disease NAGA Deficiency, Type II NAGA deficiency type 2 Kanzaki disease alpha-N-Acetylgalactosaminidase Deficiency, Type II Alpha-N-acetylgalactosaminidase
[purl.bioontology.org]
Alpha-mannosidosis Alpha-fucosidase deficiency, see Fucosidosis alpha-galactosidase A deficiency, see Fabry disease alpha-galactosidase B deficiency, see Schindler disease
[ghr.nlm.nih.gov]
1 antitrypsin deficiency alpha-1,4-glucosidase deficiency, see Pompe disease alpha-aminoadipic semialdehyde deficiency disease, see Hyperlysinemia alpha-D-mannosidosis, see
[ghr.nlm.nih.gov]
disease, see Fabry disease Anderson-Warburg syndrome, see Norrie disease Androgen insensitivity syndrome androgen receptor deficiency, see Androgen insensitivity syndrome
[ghr.nlm.nih.gov]
BackgroundFabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different
[keyopinionleaders.com]
KOLs Fabry Disease Foudil Lamari Foudil Lamari: Expert Impact Concepts for which Foudil Lamari has direct influence: Fabry disease, Posterior cortical atrophy, Grn mutations
[keyopinionleaders.com]
Known for Energy Metabolism | Hepatic Encephalopathy | Cirrhotic Patients | Csf Metabolomics Key People For Fabry Disease Top KOLs in the world #1 Robert J Desnick fabry disease
[keyopinionleaders.com]
disease Fabrys disease Fabry's disease Ganglioside sialidase deficiency Gaucher disease Gauchers disease Gaucher's disease Glucosylceramide beta-glucosidase deficiency (disorder
[icd9data.com]
[…] of alpha-galactosidase a and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems 272.7 Excludes Applies To Chemically induced lipidosis
[icd9data.com]
[…] recessive trait, it is caused by failure of lysosomal enzymes to be incorporated into lysosomes Severe infantile form of inherited lysosomal lipid storage disease due to deficiency
[icd9data.com]
Galactosidase B Deficiency, Congenital Disorder of Glycosylation Type 1B, Dysplasia Anhidrotic Immunodeficiency Oledaid, Ectodermal dysplasia hypohidrotic immune defici,
[158.69.84.99]
Fabry's Disease, German Syndrome, Hypotrichosis Lymphedema, Idiopathic Hydrops Fetalis, Kasabach Merritt Syndrome, Lissencephaly Syndrome, Lymphedema Atrial Septal Defect
[mywebanalytics.site]
Fabry disease: alpha-galactosidase deficiency and Schindler dis- ease: alpha-N-acetylgalactosaminidase deficiency. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.
[myslide.es]
alpha-mannosidosis Alpha-fucosidase deficiency, see fucosidosis alpha-galactosidase A deficiency, see Fabry disease alpha-galactosidase B deficiency, see Schindler disease
[herenciageneticayenfermedad.blogspot.com]
disease) Sanger Sequencing of the GLA gene Alpha-Galactosidase A Deficiency (Fabry disease) Detection of large deletions and/or duplications in GLA gene by MLPA Alpha-Galactosidase
[pentacorelab.hu]
1 antitrypsin deficiency alpha-1,4-glucosidase deficiency, see Pompe disease alpha-aminoadipic semialdehyde deficiency disease, see hyperlysinemia alpha-D-mannosidosis, see
[herenciageneticayenfermedad.blogspot.com]
Fabry disease. Perspectives from 5 years of FOS. Oxford: PharmaGenesis™ Ltd; 2006: 9-20.
[thieme-connect.com]
Abstract Fabry disease - the profile of an orphan disease Abstract. Fabry disease is a lysosomal storage disease, characterized by a deficient lysosomal function.
[ncbi.nlm.nih.gov]
This evidence leads to new theories of the pathogenesis of Fabry disease.
[edoc.ub.uni-muenchen.de]
Fabry disease, an important risk factor for stroke. Lancet 2005; 366:1754–1756. CrossRef PubMed Google Scholar Nakao S, Kodarna C, Takenada T et al. Fabry disease.
[link.springer.com]
Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease. Clin Genet 2005; 68:93–95.
[link.springer.com]
[Clinical efficacy of enzyme replacement therapy in Fabry disease. A critical review]. Rev Med Interne 2009; 30:920–929.
[link.springer.com]
Fabry disease, an important risk factor for stroke. Lancet 2005; 366:1754–1756. CrossRef PubMed Google Scholar Nakao S, Kodarna C, Takenada T et al. Fabry disease.
[link.springer.com]
Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease. Clin Genet 2005; 68:93–95.
[link.springer.com]
[Clinical efficacy of enzyme replacement therapy in Fabry disease. A critical review]. Rev Med Interne 2009; 30:920–929.
[link.springer.com]
Adult premature aging syndrome see Werner syndrome Adult Progeria see Werner syndrome Alagille syndrome Alpha-galactosidase A deficiency see Fabry disease Alström syndrome
[prodyachenkov.livejournal.com]
alpha-mannosidosis Alpha-fucosidase deficiency, see fucosidosis alpha-galactosidase A deficiency, see Fabry disease alpha-galactosidase B deficiency, see Schindler disease
[mygenomics.com]
Fabry disease Angiokeratoma Corporis Diffusum see Fabry disease Angiokeratoma diffuse see Fabry disease Arachnodactyly see Marfan syndrome arteriohepatic dysplasia (AHD)
[prodyachenkov.livejournal.com]
alpha alpha-galactosidase a deficiency GLA GALA GLA 300644 4296 lysosomal associated membrane protein 2 lysosomal membrane glycoprotein, 110-kd lysosome-associated membrane
[ukgtn.nhs.uk]
الصفحة 148 - Cardiac manifestations of Fabry's disease.
[books.google.com]
Fabry disease and Danon disease are X-linked disorders.
[invitae.com]
alpha-mannosidosis Alpha-fucosidase deficiency, see fucosidosis alpha-galactosidase A deficiency, see Fabry disease alpha-galactosidase B deficiency, see Schindler disease
[mygenomics.com]
/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity (T-CMVA) RAG1+del Alpha-Galactosidase A deficiency GLA+del Alpha-thalassemia
[uniklinik-freiburg.de]
Disease Symptoms The symptoms that manifest vary significantly between conditions and between individuals.
[news-medical.net]
Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B, eds.
[ncbi.nlm.nih.gov]
Morgan SH, Rudgc P, Smith SJM, Bronstein AM, Kendall BE, Holly E, et al The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)—investigation
[journals.plos.org]
Functional characterisation of alpha-galactosidase A mutations as a basis for a new classification system in Fabry disease.
[ncbi.nlm.nih.gov]
Eulenburg disease Fabry disease Anderson-Fabry disease, Alpha-galactosidase A deficiency, Angiokeratoma corporis diffusum Faciocutaneoskeletal syndrome Faciodigitogenital
[socialstyrelsen.se]
Disease Sequencing of all coding exons of the gene Deletion and duplication analysis - 1.3 GLB1 GM1-Gangliosidosis Type 1 Sequencing of all coding exons of the gene Deletion
[cegat.de]
Alpha-galactosidase A deficiency Alport syndrome -- ALPS ALS Alström syndrome Alström-Hallgren syndrome Alström-Hallgren syndrome Amyotrophic lateral sclerosis ALS, Progressive
[socialstyrelsen.se]
alpha alpha-galactosidase a deficiency GLA GALA GLA 300644 4296 lysosomal associated membrane protein 2 lysosomal membrane glycoprotein, 110-kd lysosome-associated membrane
[ukgtn.nhs.uk]
Sons who inherit the gene will have Fabry disease.
[aerjournal.com]
Fabry disease and Danon disease are X-linked disorders.
[invitae.com]
alpha alpha-galactosidase a deficiency GLA GALA GLA 300644 4296 lysosomal associated membrane protein 2 lysosomal membrane glycoprotein, 110-kd lysosome-associated membrane
[ukgtn.nhs.uk]
Conclusions This is the confusable case of HOCM with Fabry disease.
[bmccardiovascdisord.biomedcentral.com]
Left ventricular hypertrophy can also be caused by metabolic or storage disorders such as Fabry disease ( GLA gene), Danon disease ( LAMP2 gene), and Wolf-Parkinson-White
[mayomedicallaboratories.com]
Sheppard M, Reed E, Lee P, Elliott PM, Pennell DJ (2006) The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry
[link.springer.com]
Cardiovasc Imaging 24: 857–859 CrossRef PubMed CAS Google Scholar Moon JC, Sachdev B, Elkington AG et al. (2003) Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry
[link.springer.com]
alpha alpha-galactosidase a deficiency GLA GALA GLA 300644 4296 lysosomal associated membrane protein 2 lysosomal membrane glycoprotein, 110-kd lysosome-associated membrane
[ukgtn.nhs.uk]
Fabry disease and Danon disease are X-linked disorders.
[invitae.com]
Danon disease, Fabry disease, Noonan syndrome, Pompe disease, Amyloidosis) Lab Method: Deletion/Duplication Analysis Next-Gen Sequencing Ordering Preferred Specimen: 2-5 mL
[genedx.com]
Disease Alpha-Galactosidase A Deficiency Alpha-Galactosidase A, Included Anderson-Fabry Disease Angiokeratoma, Diffuse Ceramide Trihexosidase Deficiency Fabry Disease, Cardiac
[ukgtn.nhs.uk]
disease, 301500 (3)- GLA Fabry disease, cardiac variant, 301500 (3)- GLA Factor V deficiency, 227400 (3)- F5 Factor XII deficiency, 234000 (3)- F12 Familial cold inflammatory
[rcpa.edu.au]
Variant Galactosidase, Alpha, Included GLA Deficiency Hereditary Dystopic Lipidosis GLA, INCLUDED 301500 Genetic Test Registry Glycogen Storage Disease IV Amylopectinosis
[ukgtn.nhs.uk]
Fabry disease, an Ander-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.
[elsevier.es]
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet, 38 (2001), pp. 750-760 [126.] M.F. Lyon.
[elsevier.es]
Fabry's disease: long-term study of a family. Eur J Intern Med, 15 (2004), pp. 210-215 [129.] G. Pintos. Enfermedad de Fabry: reconocimiento en la edad pediátrica.
[elsevier.es]
Electron microscopy description In patients with Anderson-Fabry disease, see lipid bodies and lamellar inclusions in endothelial cells, pericytes and smooth muscle cells in
[pathologyoutlines.com]
If Fabry disease is suspected, a blood test in males should be undertaken for alpha-galactosidase A activity.
[dermnetnz.org]
Angiokeratoma corporis diffusum refers to Fabry's disease,[1] but this is usually considered a distinct condition.
[en.wikipedia.org]
alpha-mannosidosis Alpha-fucosidase deficiency, see fucosidosis alpha-galactosidase A deficiency, see Fabry disease alpha-galactosidase B deficiency, see Schindler disease
[mygenomics.com]
Disease: 0.07, 0.22, 0.73, 2.50, 5.25, 50.00, 275.36, 536.42, 655.20, 755.49 Androgen Insens.
[rifeandzappers2.com]
1 antitrypsin deficiency alpha-1,4-glucosidase deficiency, see Pompe disease alpha-aminoadipic semialdehyde deficiency disease, see hyperlysinemia alpha-D-mannosidosis, see
[mygenomics.com]