Human mannosidosis: In vitro and in vivo studies of cofactor supplementation

G. A. Grabowski; L. Walling; R. J. Desnick

Human mannosidosis: In vitro and in vivo studies of cofactor supplementation

G. A. Grabowski
, L. Walling
, R. J. Desnick

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

6 Scopus citations

Abstract

Recently, we described a family in which 4 sibs were affected with type II mannosidosis. The availability of these 4 homozygotes provided the opportunity to investigate the effects of zinc supplementation in vitro and in vivo. We report here the results of these studies including a controlled cross-over clinical trial designed to evaluate the biochemical and metabolic effectiveness of oral zinc supplementation in mannosidosis.

Original language	English
Pages (from-to)	319-334
Number of pages	16
Journal	Birth Defects: Original Article Series
Volume	17
Issue number	1
State	Published - 1981
Externally published	Yes

Cite this

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title = "Human mannosidosis: In vitro and in vivo studies of cofactor supplementation",

abstract = "Recently, we described a family in which 4 sibs were affected with type II mannosidosis. The availability of these 4 homozygotes provided the opportunity to investigate the effects of zinc supplementation in vitro and in vivo. We report here the results of these studies including a controlled cross-over clinical trial designed to evaluate the biochemical and metabolic effectiveness of oral zinc supplementation in mannosidosis.",

author = "Grabowski, \{G. A.\} and L. Walling and Desnick, \{R. J.\}",

year = "1981",

language = "English",

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journal = "Birth Defects: Original Article Series",

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publisher = "March of Dimes Birth Defects Foundation",

number = "1",

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T1 - Human mannosidosis

T2 - In vitro and in vivo studies of cofactor supplementation

AU - Grabowski, G. A.

AU - Walling, L.

AU - Desnick, R. J.

PY - 1981

Y1 - 1981

N2 - Recently, we described a family in which 4 sibs were affected with type II mannosidosis. The availability of these 4 homozygotes provided the opportunity to investigate the effects of zinc supplementation in vitro and in vivo. We report here the results of these studies including a controlled cross-over clinical trial designed to evaluate the biochemical and metabolic effectiveness of oral zinc supplementation in mannosidosis.

AB - Recently, we described a family in which 4 sibs were affected with type II mannosidosis. The availability of these 4 homozygotes provided the opportunity to investigate the effects of zinc supplementation in vitro and in vivo. We report here the results of these studies including a controlled cross-over clinical trial designed to evaluate the biochemical and metabolic effectiveness of oral zinc supplementation in mannosidosis.

UR - https://www.scopus.com/pages/publications/0019127556

M3 - Article

C2 - 7004518

AN - SCOPUS:0019127556

SN - 0547-6844

VL - 17

SP - 319

EP - 334

JO - Birth Defects: Original Article Series

JF - Birth Defects: Original Article Series

IS - 1

ER -

Human mannosidosis: In vitro and in vivo studies of cofactor supplementation

Abstract

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