Successful hematopoietic stem cell transplantation in Farber disease

Josef Vormoor; Karoline Ehlert; Andreas H Groll; Hans-Georg Koch; Michael Frosch; Johannes Roth

doi:10.1016/j.jpeds.2003.09.051

Successful hematopoietic stem cell transplantation in Farber disease

Josef Vormoor, Karoline Ehlert, Andreas H Groll, Hans-Georg Koch, Michael Frosch, Johannes Roth

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

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Farber disease, a lysosomal storage disorder, has a dismal prognosis leading to death with progressive granulomatous inflammation, even in patients without central nervous system involvement (type 2/3). We report the first successful hematopoietic stem cell transplantations in 2 patients with Farber disease type 2/3, resulting in resolution of symptoms.

Originele taal-2	Engels
Pagina's (van-tot)	132-4
Aantal pagina's	3
Tijdschrift	Journal of Pediatrics
Volume	144
Nummer van het tijdschrift	1
DOI's	https://doi.org/10.1016/j.jpeds.2003.09.051
Status	Gepubliceerd - jan. 2004
Extern gepubliceerd	Ja

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title = "Successful hematopoietic stem cell transplantation in Farber disease",

abstract = "Farber disease, a lysosomal storage disorder, has a dismal prognosis leading to death with progressive granulomatous inflammation, even in patients without central nervous system involvement (type 2/3). We report the first successful hematopoietic stem cell transplantations in 2 patients with Farber disease type 2/3, resulting in resolution of symptoms.",

keywords = "Child, Preschool, Female, Galactosylgalactosylglucosylceramidase/deficiency, Granuloma/surgery, Hematopoietic Stem Cell Transplantation, Humans, Lysosomal Storage Diseases/surgery, Male",

author = "Josef Vormoor and Karoline Ehlert and Groll, {Andreas H} and Hans-Georg Koch and Michael Frosch and Johannes Roth",

year = "2004",

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AU - Groll, Andreas H

AU - Koch, Hans-Georg

AU - Frosch, Michael

AU - Roth, Johannes

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AB - Farber disease, a lysosomal storage disorder, has a dismal prognosis leading to death with progressive granulomatous inflammation, even in patients without central nervous system involvement (type 2/3). We report the first successful hematopoietic stem cell transplantations in 2 patients with Farber disease type 2/3, resulting in resolution of symptoms.

KW - Child, Preschool

KW - Female

KW - Galactosylgalactosylglucosylceramidase/deficiency

KW - Granuloma/surgery

KW - Hematopoietic Stem Cell Transplantation

KW - Humans

KW - Lysosomal Storage Diseases/surgery

KW - Male

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Successful hematopoietic stem cell transplantation in Farber disease

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