Search of: lipid metabolism, inborn errors OR farber lipogranulomatosis - List Results - ClinicalTrials.govSearch of: 'lipid metabolism, inborn errors' OR 'farber lipogranulomatosis' - List Results - ClinicalTrials.gov

Establish a dataset on the natural history of Farber Disease. 40. All. Child, Adult, Senior. NCT03233841. RVT-801-0001. ... Development of a new MS-based biomarker for the early and sensitive diagnosis of Farber disease using the technique of Mass- ...
more infohttps://clinicaltrials.gov/ct2/results?cond=%22lipid+metabolism%2C+inborn+errors%22+OR+%22farber+lipogranulomatosis%22&show_rss=Y&sel_rss=new14

Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer...Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer...

Farber lipogranulomatosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the ASAH1 gene. In ... Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer ... 5′ splice site; ASAH1; Farber disease; acid ceramidase; exon skipping; exonic splicing enhancer; polypyrimidine tract ... the largest ever study, we identified and characterized ASAH1 mutations from 11 independent Farber disease (FD) families. A ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/24355074

Plus itPlus it

Farber lipogranulomatosis. In patients with Farber lipogranulomatosis, which is due to a deficiency of acid ceramidase activity ... La lipogranulomatose de Farber [Farber lipogranulomatosis]. Nouv Press Med 1973; 2: 767-770. ... Farbers lipogranulomatosis: ceramidase deficiency and prolonged survival in three relatives. Johns Hopkins Med J 1980; 147: ... Ceramides in a patient with lipogranulomatosis (Farbers disease) with chronic course. Scand J Clin Lab Invest 1971; 27: 393- ...
more infohttp://err.ersjournals.com/content/22/130/437

CERS1 Gene - GeneCards | CERS1 Protein | CERS1 AntibodyCERS1 Gene - GeneCards | CERS1 Protein | CERS1 Antibody

farber lipogranulomatosis. *frbrl. ceroid lipofuscinosis, neuronal, 9. *cln9. - elite association - COSMIC cancer census ...
more infohttps://www.genecards.org/cgi-bin/carddisp.pl?gene=CERS1

Welcome to cider
		Welcome to cider

Farber lipogranulomatosis. Inflammatory bowel disease. Lung disease. Major depressive disorder. Multiple sclerosis. Muscular ...
more infohttp://mips.helmholtz-muenchen.de/cider/

Welcome to ciderWelcome to cider

Farber lipogranulomatosis. Inflammatory bowel disease. Lung disease. Major depressive disorder. Multiple sclerosis. Muscular ...
more infohttp://mips.helmholtz-muenchen.de/cider/entry/show/315?iList=1247&term=%26quot%3Bgluconeogenesis%26quot%3B&refFieldSingle=Biological+Process%28GO%29

A - Health Conditions - Genetics Home Reference - NIHA - Health Conditions - Genetics Home Reference - NIH

AC deficiency, see Farber lipogranulomatosis. *ACAD9 deficiency. *ACADM deficiency, see Medium-chain acyl-CoA dehydrogenase ...
more infohttps://ghr.nlm.nih.gov/condition

Search of: Erdheim Chester - List Results - ClinicalTrials.govSearch of: Erdheim Chester - List Results - ClinicalTrials.gov

Farber Disease Natural History Study. *Farber Disease. *Farber's Disease. *Farber Lipogranulomatosis ... Establish a dataset on the natural history of Farber Disease. 40. All. Child, Adult, Older Adult. NCT03233841. RVT-801-0001. ... Development of a new MS-based biomarker for the early and sensitive diagnosis of Farber disease using the technique of Mass- ...
more infohttps://clinicaltrials.gov/ct2/results?term=Erdheim+Chester&Search=Search

Soorten - BoksSoorten - Boks

149 Farber lipogranulomatosis. 150 ceroid lipofuscinosis type 1-10. L. disorders of purine and pyrimidine me. tabolism ...
more infohttps://boks.be/soorten/

Browse A-Z



             | Genetic and Rare Diseases Information Center (GARD) - an NCATS ProgramBrowse A-Z | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program

Farber disease - See Farbers disease * Farber lipogranulomatosis - See Farbers disease * Farbers disease ...
more infohttps://rarediseases.info.nih.gov/diseases/browse-by-first-letter/F

AB0880 Farber Disease Diagnosed as Juvenile Idiopathic Arthritis | Annals of the Rheumatic DiseasesAB0880 Farber Disease Diagnosed as Juvenile Idiopathic Arthritis | Annals of the Rheumatic Diseases

Background Farber lipogranulomatosis (Farber Disease; FD) is an ultra-rare lysosomal storage disorder resulting from the ... Methods We conducted a literature search of Farber Disease case studies since 1990. Moderate Farber Disease patients were ... We propose that Farber Disease can account for specific cases diagnosed as JIA, and that clinically guided genetic screening of ... Farber Disease has a heterogeneous presentation ranging from a severe phenotype with respiratory and CNS involvement and an ...
more infohttp://ard.bmj.com/content/73/Suppl_2/1092.2

Dementia: Adult Lysosomal Disorders with Dementia | Differential Diagnosis in NeurologyDementia: Adult Lysosomal Disorders with Dementia | Differential Diagnosis in Neurology

Farbers Disease (Farbers Lipogranulomatosis). *General characteristic: *Genetics: *Defect in lysosomal ceramidase activity ...
more infohttp://neurodiffdx.com/sections/?t=1607

List of OMIM disorder codes - WikipediaList of OMIM disorder codes - Wikipedia

SLC2A2 Farber lipogranulomatosis; 228000; ASAH1 Fatty liver, acute, of pregnancy; 609016; HADHA Febrile convulsions, familial, ...
more infohttps://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

Skin Diseases Information Center: Acne Vulgaris, CREST Syndrome, Acrodermatitis SyndromeSkin Diseases Information Center: Acne Vulgaris, CREST Syndrome, Acrodermatitis Syndrome

Farbers Lipogranulomatosis or Ceramidase Deficiency: Types, Causes, Symptoms, Treatment. Farbers lipogranulomatosis is also ... known as ceramidase deficiency, Farber disease and acid ceramidase deficiency. Farbers lipogranulomatosis is a rare genetic ...
more infohttps://www.epainassist.com/skin/10

Farber disease - WikipediaFarber disease - Wikipedia

Farber disease (also known as Farbers lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and " ... Farber S (1952). "A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important ... Devi AR, Gopikrishna M, Ratheesh R, Savithri G, Swarnalata G, Bashyam M (2006). "Farber lipogranulomatosis: clinical and ... Most children with Farber disease die by age 2, usually from lung disease. In one of the most severe forms of the disease, an ...
more infohttps://en.m.wikipedia.org/wiki/Farber%E2%80%99s_disease

Mukopolysaccharidosen | Springer for Research & DevelopmentMukopolysaccharidosen | Springer for Research & Development

Moser, H. W., Prensky, A. L., Wolfe, H. J., Rosman, N. P.: Farbers lipogranulomatosis. Report of a case and demonstration of ... Abul-Haj, S. K., Martz, D. G., Douglas, W. F., Geppert, L. J.: Farbers disease. Report of a case with observations on its ...
more infohttps://rd.springer.com/chapter/10.1007/978-3-642-65723-8_7

SelfDecode | Genome AnalysisSelfDecode | Genome Analysis

Farber Lipogranulomatosis SOD2. Fatigue EPO. Female Urogenital Diseases MSX2. Fibroadenoma MED12. Fibrous Dysplasia Of Bone FOS ...
more infohttps://www.selfdecode.com/molecular-function/GO:0006357/

Welcome to ciderWelcome to cider

Farber lipogranulomatosis. Inflammatory bowel disease. Lung disease. Major depressive disorder. Multiple sclerosis. Muscular ...
more infohttp://ibis.helmholtz-muenchen.de/cider/entry/show/6116?iList=57232&iList=57234&term=%26quot%3BGlutathione%26quot%3B&refFieldSingle=

Welcome to ciderWelcome to cider

Farber lipogranulomatosis. Inflammatory bowel disease. Lung disease. Major depressive disorder. Multiple sclerosis. Muscular ...
more infohttp://ibis.helmholtz-muenchen.de/cider/entry/show/4792?iList=47411&term=%26quot%3BDRD2%26quot%3B&refFieldSingle=Gene%2FProtein%2FComplex

Carrier Screening (rare diseases, syndromes and traits) | Sequencing.comCarrier Screening (rare diseases, syndromes and traits) | Sequencing.com

Farber Lipogranulomatosis. *Fechtner Syndrome. *Fibromatosis, Juvenile Hyaline. *Fish-eye Disease. *Focal Segmental ...
more infohttps://sequencing.com/carrier-screening-rare-diseases-syndromes-and-traits

SelfDecode | Genome AnalysisSelfDecode | Genome Analysis

Farber Lipogranulomatosis SOD2. Fatigue TGFBR2. Fatty Liver, Alcoholic PPARA. Female Urogenital Diseases BMPR1A. ...
more infohttps://www.selfdecode.com/molecular-function/GO:0007507/

TargetsTargets

Farber lipogranulomatosis. 1 , 9 Gastrointestinal system disease. 1 , 50 Hyperthyroidism. 1 , 50 ...
more infohttps://pharos.nih.gov/idg/targets?facet=Grant+Application/5U54NS039407-10

Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities<...Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities<...

N2 - Farber disease is a rare autosomal recessive disorder caused by acid ceramidase deficiency that usually presents as early- ... AB - Farber disease is a rare autosomal recessive disorder caused by acid ceramidase deficiency that usually presents as early- ... Farber disease is a rare autosomal recessive disorder caused by acid ceramidase deficiency that usually presents as early-onset ... abstract = "Farber disease is a rare autosomal recessive disorder caused by acid ceramidase deficiency that usually presents as ...
more infohttps://einstein.pure.elsevier.com/en/publications/acid-ceramidase-deficiency-in-mice-results-in-a-broad-range-of-ce

Lysosomal Storage Diseases  < Inborn Errors of Metabolisms  << Metabolic Diseases, Disorders, and Health Challenges  <<<...Lysosomal Storage Diseases < Inborn Errors of Metabolisms << Metabolic Diseases, Disorders, and Health Challenges <<<...

Farber Lipogranulomatosis *Gangliosidoses *Gaucher Disease *Globoid Cell Leukodystrophy *Niemann-Pick Diseases *Niemann-Pick ...
more infohttp://wellnessadvocate.com/?dgl=11386