Broadening the mutational spectrum of ASAH1, as a susceptibility gene for keloids.

Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay.

Ceramide toxicity in cardiomyocytes: from Farber disease to cardiovascular diseases.

Cardiac dysfunction and altered gene expression in acid ceramidase-deficient mice.

Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders.

[Therapeutic perspectives for lysosomal storage disorders caused by acid ceramidase deficiency].

Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency.

Adiponectin overexpression improves metabolic abnormalities caused by acid ceramidase deficiency but does not prolong lifespan in a mouse model of Farber Disease.

Identification of a Novel Acid Sphingomyelinase Activity Associated with Recombinant Human Acid Ceramidase.

Functional analysis of a novel splice site variant in the ASAH1 gene.

Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.

Combined saposin deficiency: A rare occurrence.

Gene Therapy of Sphingolipid Metabolic Disorders.

Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.

Cryptogenic posterior circulation stroke in children.

Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency.

rAAV-mediated over-expression of acid ceramidase prevents retinopathy in a mouse model of Farber lipogranulomatosis.

Rare Diseases in Glycosphingolipid Metabolism.

Epidermal 1-O-acylceramides appear with the establishment of the water permeability barrier in mice and are produced by maturating keratinocytes.

Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature.

Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency.

A case of ASAH1-related pure SMA evolving into adult-onset Farber disease.

Generation of an induced pluripotent stem cell line (TRNDi030-A) from a patient with Farber disease carrying a homozygous p. Y36C (c. 107 A>G) mutation in ASAH1.

Novel manifestations of Farber disease mimicking neuronopathic Gaucher disease.

ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.

Farber disease in a patient from China.

Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.

Elusive Roles of the Different Ceramidases in Human Health, Pathophysiology, and Tissue Regeneration.

Endogenous levels of 1-O-acylceramides increase upon acidic ceramidase deficiency and decrease due to loss of Dgat1 in a tissue-dependent manner.

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.

Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content.

Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease.

Parallel Reaction Monitoring reveals structure-specific ceramide alterations in the zebrafish.

Acid Sphingomyelinase Deficiency Ameliorates Farber Disease.

Farber disease: report of three cases with joint involvement mimicking juvenile idiopathic arthritis.

Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target.

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.

The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism.

Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review.

Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency.

Allogeneic hematopoietic cell transplantation in Farber disease.

Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment.

Dose dependent actions of LCL521 on acid ceramidase and key sphingolipid metabolites.

Zebrafish acid ceramidase: Expression in Pichia pastoris GS115and biochemical characterization.

Acid ceramidase deficiency: Farber disease and SMA-PME.

Pathological manifestations of Farber disease in a new mouse model.

Structural basis for the activation of acid ceramidase.

Deletion of MCP-1 Impedes Pathogenesis of Acid Ceramidase Deficiency.

Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1.

Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency.

Lysosomal storage diseases.

A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features.

C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.

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

Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice.

[A case report of childhood Farber's disease and literature review].

Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.

Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency.

Spinal muscular atrophy associated with progressive myoclonus epilepsy.

Early morphological diagnosis of Farber disease.

Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

Factors Predicting Graft-versus-Host Disease-Free, Relapse-Free Survival after Allogeneic Hematopoietic Cell Transplantation: Multivariable Analysis from a Single Center.

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

Post-relapse survival after haploidentical transplantation vs matched-related or matched-unrelated hematopoietic cell transplantation.

Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy.

Nervous system involvement in Farber disease.

The molecular medicine of acid ceramidase.

Development of an acid ceramidase activity-based probe.

Markedly perturbed hematopoiesis in acid ceramidase deficient mice.

Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1.