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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	132-4
Number of pages	3
Journal	Journal of Pediatrics
Volume	144
Issue number	1
DOIs	https://doi.org/10.1016/j.jpeds.2003.09.051
Publication status	Published - Jan 2004
Externally published	Yes

Keywords

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

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10.1016/j.jpeds.2003.09.051

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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 - Vormoor, Josef

AU - Ehlert, Karoline

AU - Groll, Andreas H

AU - Koch, Hans-Georg

AU - Frosch, Michael

AU - Roth, Johannes

PY - 2004/1

Y1 - 2004/1

N2 - 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.

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

U2 - 10.1016/j.jpeds.2003.09.051

DO - 10.1016/j.jpeds.2003.09.051

M3 - Article

C2 - 14722533

SN - 0022-3476

VL - 144

SP - 132

EP - 134

JO - Journal of Pediatrics

JF - Journal of Pediatrics

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ER -

Successful hematopoietic stem cell transplantation in Farber disease

Abstract

Keywords

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