Correction of enzymatic deficiencies by renal transplantation: Fabry's disease

Robert J. Desnick; Richard L. Simmons; Kathleen Y. Allen; John E. Woods; Carl F. Anderson; John S. Najarian; William Krivit

Correction of enzymatic deficiencies by renal transplantation: Fabry's disease

Robert J. Desnick, Richard L. Simmons, Kathleen Y. Allen, John E. Woods, Carl F. Anderson, John S. Najarian, William Krivit

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

86 Scopus citations

Abstract

1. 1. Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism. 2. 2. The systemic accumulation of the Fabry lipid, trihexosyl ceramide, results from the deficient activity of the Fabry enzyme, ceramide trihexosidase, an α-galactosidase. 3. 3. Renal transplantation provides active enzyme to correct the metabolic defects in Fabry's disease. 4. 4. "Enzyme transplantation" may provide the enzymatic engineering to correct other inborn errors of metabolism.

Original language	English
Pages (from-to)	203-211
Number of pages	9
Journal	Surgery
Volume	72
Issue number	2
State	Published - Aug 1972
Externally published	Yes

Cite this

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title = "Correction of enzymatic deficiencies by renal transplantation: Fabry's disease",

abstract = "1. 1. Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism. 2. 2. The systemic accumulation of the Fabry lipid, trihexosyl ceramide, results from the deficient activity of the Fabry enzyme, ceramide trihexosidase, an α-galactosidase. 3. 3. Renal transplantation provides active enzyme to correct the metabolic defects in Fabry's disease. 4. 4. {"}Enzyme transplantation{"} may provide the enzymatic engineering to correct other inborn errors of metabolism.",

author = "Desnick, {Robert J.} and Simmons, {Richard L.} and Allen, {Kathleen Y.} and Woods, {John E.} and Anderson, {Carl F.} and Najarian, {John S.} and William Krivit",

year = "1972",

month = aug,

language = "English",

volume = "72",

pages = "203--211",

journal = "Surgery",

issn = "0039-6060",

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T1 - Correction of enzymatic deficiencies by renal transplantation

T2 - Fabry's disease

AU - Desnick, Robert J.

AU - Simmons, Richard L.

AU - Allen, Kathleen Y.

AU - Woods, John E.

AU - Anderson, Carl F.

AU - Najarian, John S.

AU - Krivit, William

PY - 1972/8

Y1 - 1972/8

N2 - 1. 1. Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism. 2. 2. The systemic accumulation of the Fabry lipid, trihexosyl ceramide, results from the deficient activity of the Fabry enzyme, ceramide trihexosidase, an α-galactosidase. 3. 3. Renal transplantation provides active enzyme to correct the metabolic defects in Fabry's disease. 4. 4. "Enzyme transplantation" may provide the enzymatic engineering to correct other inborn errors of metabolism.

AB - 1. 1. Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism. 2. 2. The systemic accumulation of the Fabry lipid, trihexosyl ceramide, results from the deficient activity of the Fabry enzyme, ceramide trihexosidase, an α-galactosidase. 3. 3. Renal transplantation provides active enzyme to correct the metabolic defects in Fabry's disease. 4. 4. "Enzyme transplantation" may provide the enzymatic engineering to correct other inborn errors of metabolism.

UR - http://www.scopus.com/inward/record.url?scp=0015386023&partnerID=8YFLogxK

M3 - Article

C2 - 4559379

AN - SCOPUS:0015386023

SN - 0039-6060

VL - 72

SP - 203

EP - 211

JO - Surgery

JF - Surgery

IS - 2

ER -

Correction of enzymatic deficiencies by renal transplantation: Fabry's disease

Abstract

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