Works matching DE "FARBER disease"

Results: 15

Odontoid infiltration and spinal compression in Farber Disease: reversal by haematopoietic stem cell transplantation.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 10, p. 1399, doi. 10.1007/s00431-013-2098-0

By:

Jarisch, Andrea;
Steward, Colin;
Sörensen, Jan;
Porto, Luciana;
Kieslich, Matthias;
Klingebiel, Thomas;
Bader, Peter

Publication type:

Article

Acid ceramidase deficiency: Farber disease and SMA-PME.

Published in:

2018

By:

Yu, Fabian P. S.;
Amintas, Samuel;
Levade, Thierry;
Medin, Jeffrey A.

Publication type:

journal 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

Primary Sclerosing Lipogranuloma: A Rare Cause of Scrotal Mass.

Published in:

Journal of Clinical & Diagnostic Research, 2018, v. 12, n. 1, p. 4, doi. 10.7860/JCDR/2018/31686.11052

By:

SINGH, SMITA;
KASHYAP, ANAMIKA;
AGARWAL, KIRAN;
ANDLEY, MANOJ

Publication type:

Article

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

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 530, doi. 10.1111/cge.12316

By:

Bashyam, M.D.;
Chaudhary, A.K.;
Kiran, M.;
Reddy, V.;
Nagarajaram, H.A.;
Dalal, A.;
Bashyam, L.;
Suri, D.;
Gupta, A.;
Gupta, N.;
Kabra, M.;
Puri, R.D.;
RamaDevi, R.;
Kapoor, S.;
Danda, S.

Publication type:

Article

PENILE PARAFFINOMA - DISCUSSIONS ON A CLINICAL CASE.

Published in:

Dermatovenerologia Journal, 2024, v. 69, n. 1, p. 19

By:

BÃLAN, ANDREEA-BEATRIX;
AMBROS, MIRCEA;
ÞÃREAN, SMARANDA;
OANÞÃ, ALEXANDRU

Publication type:

Article

Paraffin Granuloma Associated with Buried Glans Penis-Induced Sexual and Voiding Dysfunction.

Published in:

World Journal of Men's Health, 2017, v. 35, n. 2, p. 129, doi. 10.5534/wjmh.2017.35.2.129

By:

Wonhee Chon;
Ja Yun Koo;
Min Jung Park;
Kyung-Un Choi;
Hyun Jun Park;
Nam Cheol Park

Publication type:

Article

Quality of life in patients with Fabry disease: a systematic review of the literature.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0296-8

By:

Arends, Maarten;
Hollak, Carla E. M.;
Biegstraaten, Marieke

Publication type:

Article

Early morphological diagnosis of Farber disease.

Published in:

British Journal of Haematology, 2016, v. 175, n. 2, p. 189, doi. 10.1111/bjh.14265

By:

Nivaggioni, Vanessa;
Cano, Aline;
Arnoux, Isabelle;
Michel, Gérard;
Loosveld, Marie

Publication type:

Article

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

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-56466-z

By:

Zhang, Tejia;
Trauger, Sunia A.;
Vidoudez, Charles;
Doane, Kim P.;
Pluimer, Brock R.;
Peterson, Randall T.

Publication type:

Article

Coelomic Granulomatous Fat Necrosis (Lipogranulomatosis) in an Umbrella Cockatoo ( Cacatua alba).

Published in:

Journal of Avian Medicine & Surgery, 2014, v. 28, n. 3, p. 242, doi. 10.1647/2013-048R1

By:

Oglesbee, Barbara;
Lightner, Barbara;
Oglesbee, Michael

Publication type:

Article

Functional Analysis of the Ser149/Thr149 Variants of Human Aspartylglucosaminidase and Optimization of the Coding Sequence for Protein Production.

Published in:

International Journal of Molecular Sciences, 2017, v. 18, n. 4, p. 706, doi. 10.3390/ijms18040706

By:

Banning, Antje;
König, Jan F.;
Gray, Steven J.;
Tikkanen, Ritva

Publication type:

Article

Infected Sclerosing Lipogranuloma after Hernioplasty: Ultrasonographic and MRI Findings.

Published in:

Journal of the Korean Society of Radiology, 2020, v. 81, n. 5, p. 1255, doi. 10.3348/jksr.2019.0014

By:

Jong Soo Park;
Jae Ho Cho

Publication type:

Article

Pathological manifestations of Farber disease in a new mouse model.

Published in:

Biological Chemistry, 2018, v. 399, n. 10, p. 1183, doi. 10.1515/hsz-2018-0170

By:

Beckmann, Nadine;
Kadow, Stephanie;
Schumacher, Fabian;
Göthert, Joachim R.;
Kesper, Stefanie;
Draeger, Annette;
Schulz-Schaeffer, Walter J.;
Jiang Wang;
Becker, Jan U.;
Kramer, Melanie;
Kühn, Claudine;
Kleuser, Burkhard;
Becker, Katrin Anne;
Gulbins, Erich;
Carpinteiro, Alexander

Publication type:

Article

The molecular medicine of acid ceramidase.

Published in:

Biological Chemistry, 2015, v. 396, n. 6/7, p. 759, doi. 10.1515/hsz-2014-0290

By:

Frohbergh, Michael;
Xingxuan He;
Schuchman, Edward H.

Publication type:

Article