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This article was published in the following journal.
Name: American journal of respiratory and critical care medicine
Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly ceram...
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), a rare disorder caused by mutation in the ASAH1 gene, is characterized by progressive muscle weakness and intractable epilepsy. T...
The use of intensive pediatric protocols for the treatment of ALL is being extended to older adults.
Response to Letter to the Editor: Author's Reply in Reply to: Ultrastructural Investigation of Pelvic Peritoneum in Patients with Chronic Pelvic Pain and Subtle Endometriosis in Association with Chromoendoscopy.
The primary objective of this study is to establish the natural history of Farber disease (acid ceramidase deficiency) through the collection and analysis of retrospective and prospective ...
The aim of this study is to assess the benefits from the AAISafeR/SafeR algorithm of Symphony 2550 or REPLY DR in a wide range of pacemaker patients. The expected benefits will be a resul...
This study is collecting data on quality of life, (care)needs and socio-economic factors in colorectal (ex-)cancer patients via a written questionnaire completed by the patient him/herself...
This study will add interleukin-2 (IL-2) to a regimen of post-remission therapy consisting of high-dose ara-C. Patients with AML in first remission will receive 3 cycles of high-dose ara-...
The purpose of this research study is to assess the safety and immune activity of a vaccine made from the participant's own cancer cells, when administered after a reduced intensity transp...
A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE.
A ceramidase subtype that is active at acid pH. It plays an important role in sphingolipid degradation by catalyzing the lysosomal hydrolysis of ceramide to sphingosine and free fatty acid. Inherited deficiency of acid ceramidase activity results in FARBER LIPOGRANULOMATOSIS.