Works matching DE "FARBER disease"
Results: 15
Primary Sclerosing Lipogranuloma: A Rare Cause of Scrotal Mass.
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- Journal of Clinical & Diagnostic Research, 2018, v. 12, n. 1, p. 4, doi. 10.7860/JCDR/2018/31686.11052
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- Publication type:
- Article
Acid ceramidase deficiency: Farber disease and SMA-PME.
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- 2018
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- Publication type:
- journal article
Early morphological diagnosis of Farber disease.
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- British Journal of Haematology, 2016, v. 175, n. 2, p. 189, doi. 10.1111/bjh.14265
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- Publication type:
- Article
Infected Sclerosing Lipogranuloma after Hernioplasty: Ultrasonographic and MRI Findings.
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- Journal of the Korean Society of Radiology, 2020, v. 81, n. 5, p. 1255, doi. 10.3348/jksr.2019.0014
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- Publication type:
- Article
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.
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- Clinical Genetics, 2014, v. 86, n. 6, p. 530, doi. 10.1111/cge.12316
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- Publication type:
- Article
Pathological manifestations of Farber disease in a new mouse model.
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- Biological Chemistry, 2018, v. 399, n. 10, p. 1183, doi. 10.1515/hsz-2018-0170
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- Publication type:
- Article
The molecular medicine of acid ceramidase.
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- Biological Chemistry, 2015, v. 396, n. 6/7, p. 759, doi. 10.1515/hsz-2014-0290
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- Publication type:
- Article
PENILE PARAFFINOMA - DISCUSSIONS ON A CLINICAL CASE.
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- Dermatovenerologia Journal, 2024, v. 69, n. 1, p. 19
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- Publication type:
- Article
Quality of life in patients with Fabry disease: a systematic review of the literature.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0296-8
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- Publication type:
- Article
Parallel Reaction Monitoring reveals structure-specific ceramide alterations in the zebrafish.
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- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-56466-z
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- Publication type:
- Article
Odontoid infiltration and spinal compression in Farber Disease: reversal by haematopoietic stem cell transplantation.
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- European Journal of Pediatrics, 2014, v. 173, n. 10, p. 1399, doi. 10.1007/s00431-013-2098-0
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- Publication type:
- Article
National Task Force Multicentric Collaborative Study of the Clinical Biochemical and Molecular Characterization of Lysosomal Storage Disorders in India.
- Published in:
- 2016
- Publication type:
- Chart/Diagram/Graph
Coelomic Granulomatous Fat Necrosis (Lipogranulomatosis) in an Umbrella Cockatoo ( Cacatua alba).
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- Journal of Avian Medicine & Surgery, 2014, v. 28, n. 3, p. 242, doi. 10.1647/2013-048R1
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- Publication type:
- Article
Functional Analysis of the Ser149/Thr149 Variants of Human Aspartylglucosaminidase and Optimization of the Coding Sequence for Protein Production.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 4, p. 706, doi. 10.3390/ijms18040706
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- Publication type:
- Article
Paraffin Granuloma Associated with Buried Glans Penis-Induced Sexual and Voiding Dysfunction.
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- World Journal of Men's Health, 2017, v. 35, n. 2, p. 129, doi. 10.5534/wjmh.2017.35.2.129
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- Publication type:
- Article