1996
DOI: 10.1016/0887-8994(96)00021-5
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The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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Cited by 54 publications
(26 citation statements)
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“…Other less common features include microcephaly, cholestatic liver disease, massive hepatic necrosis, anemia, thrombocytopenia, and hypoparathyroidism. There may be a history of sudden death of a sibling or a history of maternal illness during pregnancy (Amirkhan et al, 1997;Bertini et al, 1992;Dionisi-Vici et al, 1991Hagenfeldt et al, 1995;Lawlor and Kalina, 1997;Martins et al, 1996;Miyajima et al, 1997;Pons et al, 1996;Przyrembel et al, 1991;Ribes et al, 1992;Rocchiccioli et al, 1990;Schaefer et al, 1996;Schrijver-Wieling et al, 1997;Sewell et al, 1994;Tyni et al, 1997aTyni et al, , 1997cTyni et al, , 1998bTyni et al, , 1998cWanders et al, 1990). The pathologic findings in the brain include vacuoles in the cerebellar dentate nucleus, lateral geniculate nucleus, pontine nuclei, and deep cerebral gray matter (Tyni et al, 1997b).…”
Section: Rakheja Et Almentioning
confidence: 99%
“…Other less common features include microcephaly, cholestatic liver disease, massive hepatic necrosis, anemia, thrombocytopenia, and hypoparathyroidism. There may be a history of sudden death of a sibling or a history of maternal illness during pregnancy (Amirkhan et al, 1997;Bertini et al, 1992;Dionisi-Vici et al, 1991Hagenfeldt et al, 1995;Lawlor and Kalina, 1997;Martins et al, 1996;Miyajima et al, 1997;Pons et al, 1996;Przyrembel et al, 1991;Ribes et al, 1992;Rocchiccioli et al, 1990;Schaefer et al, 1996;Schrijver-Wieling et al, 1997;Sewell et al, 1994;Tyni et al, 1997aTyni et al, , 1997cTyni et al, , 1998bTyni et al, , 1998cWanders et al, 1990). The pathologic findings in the brain include vacuoles in the cerebellar dentate nucleus, lateral geniculate nucleus, pontine nuclei, and deep cerebral gray matter (Tyni et al, 1997b).…”
Section: Rakheja Et Almentioning
confidence: 99%
“…Ocular complications beginning with retinal pigmentations and progressing to impaired retinal function with pathological electroretinography (ERG) have been described in case reports and in small case series since the late 1980s (Poll-The et al 1988;Przyrembel et al 1991;Bertini et al 1992;Pons et al 1996) followed by more detailed descriptions of the chorioretinal atrophy (Schrijver-Wieling et al 1997) and an association to cataract (Uusimaa et al 1997). Tyni et al (1998a) reported the ocular changes in four long-term survivors and 15 infants, all dead before 14 months of age.…”
mentioning
confidence: 99%
“…In addition, cardiomyopathy (1,2) and hepatomegaly with cholestatic jaundice, which can sometimes progress to fulminant liver failure, are regularly observed (2,3). Peripheral neuropathy and pigmentary retinopathy can occur during the course of the disease (2)(3)(4)(5). LCHAD deficiency can also present as sudden infant death even in the neonatal period (2,6).…”
mentioning
confidence: 99%
“…Patients usually present in infancy with recurrent attacks of hypoketotic hypoglycemia provoked by prolonged fasting, often during a minor intercurrent illness such as gastroenteritis (1). In addition, cardiomyopathy (1,2) and hepatomegaly with cholestatic jaundice, which can sometimes progress to fulminant liver failure, are regularly observed (2,3). Peripheral neuropathy and pigmentary retinopathy can occur during the course of the disease (2)(3)(4)(5).…”
mentioning
confidence: 99%