Literature DB >> 6423791

Phenotypic variability in siblings with Farber disease.

S E Antonarakis, D Valle, H W Moser, A Moser, S J Qualman, W H Zinkham.   

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Year:  1984        PMID： 6423791     DOI： 10.1016/s0022-3476(84)81106-3

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  15 in total

Review 1.  Farber disease: an ultrastructural study. Report of a case and review of the literature.

Authors:  L Zappatini-Tommasi; C Dumontel; P Guibaud; C Girod
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1992

2.  In vivo delivery of human acid ceramidase via cord blood transplantation and direct injection of lentivirus as novel treatment approaches for Farber disease.

Authors:  Shobha Ramsubir; Takahiro Nonaka; Carmen Bedia Girbés; Stéphane Carpentier; Thierry Levade; Jeffrey A Medin
Journal:  Mol Genet Metab       Date:  2008-09-20       Impact factor: 4.797

3.  Markedly perturbed hematopoiesis in acid ceramidase deficient mice.

Authors:  Shaalee Dworski; Alexandra Berger; Caren Furlonger; Joshua M Moreau; Makoto Yoshimitsu; Jessa Trentadue; Bryan C Y Au; Christopher J Paige; Jeffrey A Medin
Journal:  Haematologica       Date:  2015-02-14       Impact factor: 9.941

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

Authors:  Fabian P S Yu; Diana Islam; Jakub Sikora; Shaalee Dworski; Jiří Gurka; Lucía López-Vásquez; Mingyao Liu; Wolfgang M Kuebler; Thierry Levade; Haibo Zhang; Jeffrey A Medin
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2017-11-22       Impact factor: 5.464

5.  Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case.

Authors:  M J Nowaczyk; A Feigenbaum; M M Silver; J Callahan; A Levin; V Jay
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

6.  Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy.

Authors:  J F Pellissier; M Berard-Badier; N Pinsard
Journal:  Acta Neuropathol       Date:  1986       Impact factor: 17.088

Review 7.  Ceramidases: regulators of cellular responses mediated by ceramide, sphingosine, and sphingosine-1-phosphate.

Authors:  Cungui Mao; Lina M Obeid
Journal:  Biochim Biophys Acta       Date:  2008-06-13

Review 8.  Lysosomal storage diseases.

Authors:  Carlos R Ferreira; William A Gahl
Journal:  Transl Sci Rare Dis       Date:  2017-05-25

9.  Farber disease: clinical presentation, pathogenesis and a new approach to treatment.

Authors:  Karoline Ehlert; Michael Frosch; Natalja Fehse; Axel Zander; Johannes Roth; Josef Vormoor
Journal:  Pediatr Rheumatol Online J       Date:  2007-06-29       Impact factor: 3.054

10.  Systemic ceramide accumulation leads to severe and varied pathological consequences.

Authors:  Abdulfatah M Alayoubi; James C M Wang; Bryan C Y Au; Stéphane Carpentier; Virginie Garcia; Shaalee Dworski; Samah El-Ghamrasni; Kevin N Kirouac; Mathilde J Exertier; Zi Jian Xiong; Gilbert G Privé; Calogera M Simonaro; Josefina Casas; Gemma Fabrias; Edward H Schuchman; Patricia V Turner; Razqallah Hakem; Thierry Levade; Jeffrey A Medin
Journal:  EMBO Mol Med       Date:  2013-05-16       Impact factor: 12.137
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