Mutation analysis and X-inactivation studies in the galactosidase A gene

A Morrone; C Cavicchi; T Bardelli; D Antuzzi; Donato Rigante; R Parini; M Di Rocco; S Feriozzi; O Gabrielli; R Barone; M Aricò; Roberta Ricci; E. Zammarchi

Mutation analysis and X-inactivation studies in the galactosidase A gene

A Morrone
, C Cavicchi
, T Bardelli
, D Antuzzi
, Donato Rigante
, R Parini
, M Di Rocco
, S Feriozzi
, O Gabrielli
, R Barone
, M Aricò
, Roberta Ricci
, E. Zammarchi

Risultato della ricerca: Contributo in rivista › Articolo

Abstract

Fabry disease in an X-linked disorder characterized by the abnormal accumulation of a neutral glycolipid, trihexosylceramide, and its clinical manifestations are protean. The deficient enzyme is the one which cleaves the glycosidic bond between the terminal and pre-terminal galactose residues of trihexosylceramide. We report on the alpha-galactosidase assay and X-inactivation studies in patients with a suspected Fabry disease.

Lingua originale	Inglese
pagine (da-a)	421-421
Numero di pagine	1
Rivista	American Journal of Human Genetics
Volume	2002
Stato di pubblicazione	Pubblicato - 2002

Keywords

Fabry disease

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title = "Mutation analysis and X-inactivation studies in the galactosidase A gene",

abstract = "Fabry disease in an X-linked disorder characterized by the abnormal accumulation of a neutral glycolipid, trihexosylceramide, and its clinical manifestations are protean. The deficient enzyme is the one which cleaves the glycosidic bond between the terminal and pre-terminal galactose residues of trihexosylceramide. We report on the alpha-galactosidase assay and X-inactivation studies in patients with a suspected Fabry disease.",

keywords = "Fabry disease, Fabry disease",

author = "A Morrone and C Cavicchi and T Bardelli and D Antuzzi and Donato Rigante and R Parini and \{Di Rocco\}, M and S Feriozzi and O Gabrielli and R Barone and M Aric{\`o} and Roberta Ricci and E. Zammarchi",

year = "2002",

language = "English",

volume = "2002",

pages = "421--421",

journal = "American Journal of Human Genetics",

issn = "1537-6605",

publisher = "Cell Press",

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TY - JOUR

T1 - Mutation analysis and X-inactivation studies in the galactosidase A gene

AU - Morrone, A

AU - Cavicchi, C

AU - Bardelli, T

AU - Antuzzi, D

AU - Rigante, Donato

AU - Parini, R

AU - Di Rocco, M

AU - Feriozzi, S

AU - Gabrielli, O

AU - Barone, R

AU - Aricò, M

AU - Ricci, Roberta

AU - Zammarchi, E.

PY - 2002

Y1 - 2002

N2 - Fabry disease in an X-linked disorder characterized by the abnormal accumulation of a neutral glycolipid, trihexosylceramide, and its clinical manifestations are protean. The deficient enzyme is the one which cleaves the glycosidic bond between the terminal and pre-terminal galactose residues of trihexosylceramide. We report on the alpha-galactosidase assay and X-inactivation studies in patients with a suspected Fabry disease.

AB - Fabry disease in an X-linked disorder characterized by the abnormal accumulation of a neutral glycolipid, trihexosylceramide, and its clinical manifestations are protean. The deficient enzyme is the one which cleaves the glycosidic bond between the terminal and pre-terminal galactose residues of trihexosylceramide. We report on the alpha-galactosidase assay and X-inactivation studies in patients with a suspected Fabry disease.

KW - Fabry disease

UR - http://hdl.handle.net/10807/90842

M3 - Article

SN - 1537-6605

VL - 2002

SP - 421

EP - 421

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -

Mutation analysis and X-inactivation studies in the galactosidase A gene

Abstract

Keywords

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