scholarly article | Q13442814 |
P2093 | author name string | Krause WL | |
Yeager AM | |||
Moser HW | |||
Davis PC | |||
Coles CD | |||
Uhas KA | |||
P2860 | cites work | Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease | Q24336488 |
The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression | Q28141241 | ||
Purification, characterization, and biosynthesis of human acid ceramidase | Q28301145 | ||
Substrate-specificities of acid and alkaline ceramidases in fibroblasts from patients with Farber disease and controls | Q28367380 | ||
Perivascular microglial cells of the CNS are bone marrow-derived and present antigen in vivo | Q34049368 | ||
Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease | Q35147265 | ||
Lysosomal storage diseases: mechanisms of enzyme replacement therapy | Q40774431 | ||
Bone Marrow Origin of Hepatic Macrophages (Kupffer Cells) in Humans | Q40927835 | ||
Physical growth: National Center for Health Statistics percentiles | Q41435134 | ||
Ceramides in a Patient with Lipogranulomatosis (Farber's Disease) with Chronic Course | Q44537446 | ||
Ceramidase Deficiency in Farber's Disease (Lipogranulomatosis) | Q48710659 | ||
Direct evidence for a bone marrow origin of the alveolar macrophage in man | Q67482801 | ||
Determination of busulfan in human plasma by gas chromatography with electron-capture detection | Q68369505 | ||
Pretransplant conditioning with busulfan (Myleran) and cyclophosphamide for nonmalignant diseases. Assessment of engraftment following histocompatible allogeneic bone marrow transplantation | Q69894659 | ||
Farber disease with prolonged survival | Q72743335 | ||
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy | Q74450560 | ||
Disseminated lipogranulomatosis (Farber's disease) | Q78363140 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 357-363 | |
P577 | publication date | 2000-08-01 | |
P1433 | published in | Bone Marrow Transplantation | Q4941523 |
P1476 | title | Bone marrow transplantation for infantile ceramidase deficiency (Farber disease). | |
P478 | volume | 26 |
Q47762446 | A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features |
Q91966157 | Acid Sphingomyelinase Deficiency Ameliorates Farber Disease |
Q90370648 | Acid ceramidase deficiency: Farber disease and SMA-PME |
Q35903551 | Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases |
Q35161467 | Autologous transplantation of lentivector/acid ceramidase-transduced hematopoietic cells in nonhuman primates |
Q91584322 | Bone marrow transplantation for lysosomal storage disorders |
Q47372850 | Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency |
Q47833651 | Deletion of MCP-1 Impedes Pathogenesis of Acid Ceramidase Deficiency |
Q35894517 | Farber disease: clinical presentation, pathogenesis and a new approach to treatment |
Q42955175 | Farber's disease without central nervous system involvement: bone-marrow transplantation provides a promising new approach |
Q93029687 | Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review |
Q37038201 | In vivo delivery of human acid ceramidase via cord blood transplantation and direct injection of lentivirus as novel treatment approaches for Farber disease |
Q33786829 | Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy |
Q73701266 | Lysosomal Storage Diseases |
Q52149219 | Nervous system involvement in Farber disease. |
Q46632401 | Odontoid infiltration and spinal compression in Farber Disease: reversal by haematopoietic stem cell transplantation |
Q28268861 | Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1 |
Q41109207 | Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1. |
Q37188558 | Systemic ceramide accumulation leads to severe and varied pathological consequences. |
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