Evidence for autosomal recessive inheritance in systemic carnitine deficiency

S. Di Donato; M. Rimoldi; F. Cornelio; E. Bottacchi; A. Giunta

Evidence for autosomal recessive inheritance in systemic carnitine deficiency

S. Di Donato, M. Rimoldi, F. Cornelio, E. Bottacchi, A. Giunta

Fondazione IRCCS Istituto Neurologico "C. Besta"

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

Abstract

Identical twin girls died at age 3 years from acute episodes of metabolic encephalopathy reminiscent of Reye syndrome. Biochemical studies in one of the twins demonstrated low levels of carnitine in muscle, liver, and plasma. Carnitine content was low in the liver and plasma of both parents, implying autosomal recessive transmission.

Original language	English
Pages (from-to)	190-192
Number of pages	3
Journal	Annals of Neurology
Volume	11
Issue number	2
Publication status	Published - 1982

ASJC Scopus subject areas

Neuroscience(all)

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title = "Evidence for autosomal recessive inheritance in systemic carnitine deficiency",

abstract = "Identical twin girls died at age 3 years from acute episodes of metabolic encephalopathy reminiscent of Reye syndrome. Biochemical studies in one of the twins demonstrated low levels of carnitine in muscle, liver, and plasma. Carnitine content was low in the liver and plasma of both parents, implying autosomal recessive transmission.",

author = "{Di Donato}, S. and M. Rimoldi and F. Cornelio and E. Bottacchi and A. Giunta",

year = "1982",

language = "English",

volume = "11",

pages = "190--192",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "John Wiley and Sons Inc.",

number = "2",

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T1 - Evidence for autosomal recessive inheritance in systemic carnitine deficiency

AU - Di Donato, S.

AU - Rimoldi, M.

AU - Cornelio, F.

AU - Bottacchi, E.

AU - Giunta, A.

PY - 1982

Y1 - 1982

N2 - Identical twin girls died at age 3 years from acute episodes of metabolic encephalopathy reminiscent of Reye syndrome. Biochemical studies in one of the twins demonstrated low levels of carnitine in muscle, liver, and plasma. Carnitine content was low in the liver and plasma of both parents, implying autosomal recessive transmission.

AB - Identical twin girls died at age 3 years from acute episodes of metabolic encephalopathy reminiscent of Reye syndrome. Biochemical studies in one of the twins demonstrated low levels of carnitine in muscle, liver, and plasma. Carnitine content was low in the liver and plasma of both parents, implying autosomal recessive transmission.

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AN - SCOPUS:0020040063

VL - 11

SP - 190

EP - 192

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

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