Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts

S. DiDonato; F. Cornelio; L. Pacini; D. Peluchetti; M. Rimoldi; S. Spreafico

Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts

S. DiDonato, F. Cornelio, L. Pacini, D. Peluchetti, M. Rimoldi, S. Spreafico

Fondazione IRCCS Istituto Neurologico "C. Besta"

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

Abstract

A further case of carnitine palmityltransferase (CPT) deficiency in a young man is described, the defect being documented by direct enzyme assays of muscle biopsies. The finding of markedly reduced enzyme activity in the patient's cultured fibroblasts supports the concept that CPT deficiency is a systemic rather than an exclusively muscular condition.

Original language	English
Pages (from-to)	465-467
Number of pages	3
Journal	Annals of Neurology
Volume	4
Issue number	5
Publication status	Published - 1978

ASJC Scopus subject areas

Neuroscience(all)

Cite this

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title = "Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts",

abstract = "A further case of carnitine palmityltransferase (CPT) deficiency in a young man is described, the defect being documented by direct enzyme assays of muscle biopsies. The finding of markedly reduced enzyme activity in the patient's cultured fibroblasts supports the concept that CPT deficiency is a systemic rather than an exclusively muscular condition.",

author = "S. DiDonato and F. Cornelio and L. Pacini and D. Peluchetti and M. Rimoldi and S. Spreafico",

year = "1978",

language = "English",

volume = "4",

pages = "465--467",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "John Wiley and Sons Inc.",

number = "5",

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TY - JOUR

T1 - Muscle carnitine palmityltransferase deficiency

T2 - a case with enzyme deficiency in cultured fibroblasts

AU - DiDonato, S.

AU - Cornelio, F.

AU - Pacini, L.

AU - Peluchetti, D.

AU - Rimoldi, M.

AU - Spreafico, S.

PY - 1978

Y1 - 1978

N2 - A further case of carnitine palmityltransferase (CPT) deficiency in a young man is described, the defect being documented by direct enzyme assays of muscle biopsies. The finding of markedly reduced enzyme activity in the patient's cultured fibroblasts supports the concept that CPT deficiency is a systemic rather than an exclusively muscular condition.

AB - A further case of carnitine palmityltransferase (CPT) deficiency in a young man is described, the defect being documented by direct enzyme assays of muscle biopsies. The finding of markedly reduced enzyme activity in the patient's cultured fibroblasts supports the concept that CPT deficiency is a systemic rather than an exclusively muscular condition.

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M3 - Article

C2 - 736528

AN - SCOPUS:0018083015

SN - 0364-5134

VL - 4

SP - 465

EP - 467

JO - Annals of Neurology

JF - Annals of Neurology

IS - 5

ER -

Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts

Abstract

ASJC Scopus subject areas

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