Current Issues Regarding Prenatal Diagnosis of Inborn Errors of Cholesterol Biosynthesis

Cardoso, Maria Luı́s; Barbosa, Mafalda; Fortuna, Ana María; Marques, Filipe

doi:10.5772/27581

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2013

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“…So far, nine inborn errors of the distal part of cholesterol biosynthesis (IECB) pathway have been recognized (Table 1) (1,2).…”

Section: Introductionmentioning

confidence: 99%

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients

Cardoso

Barbosa

Serra³

et al. 2013

Clinical Genetics

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In the last decades, nine inherited errors of the distal part of cholesterol biosynthesis have been recognized. Affected patients present complex malformation syndromes involving different organs and systems with variable degrees of severity. We report on the phenotype evolution of three patients with enzymatic defects at three distinct steps of such pathway: Smith-Lemli-Opitz syndrome, X-linked dominant chondrodysplasia punctata type 2 and congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome. The patients' natural history, from childhood to adulthood, is thoroughly described in order to contribute for a better knowledge of these diseases. Our ultimate goals are to contribute for a better characterization of the long-term course of these metabolic disorders and for the recognition of such diseases in older patients.

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“…So far, nine inborn errors of the distal part of cholesterol biosynthesis (IECB) pathway have been recognized (Table 1) (1,2).…”

Section: Introductionmentioning

confidence: 99%

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients

Cardoso

Barbosa

Serra³

et al. 2013

Clinical Genetics

View full text Add to dashboard Cite

show abstract

Current Issues Regarding Prenatal Diagnosis of Inborn Errors of Cholesterol Biosynthesis

Cited by 1 publication

References 118 publications

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients

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