Results 171 to 180 of about 9,448 (189)
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2004
Abstract If a child presents with hypotonia, myoclonic seizures, and lactic acidosis, a mitochondrial disorder should be strongly considered. However, the results of laboratory tests that often confirm the diagnosis of a mitochondrial disorder, such as muscle biopsy, mitochondrial DNA studies, and magnetic resonance imaging, were normal ...
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Abstract If a child presents with hypotonia, myoclonic seizures, and lactic acidosis, a mitochondrial disorder should be strongly considered. However, the results of laboratory tests that often confirm the diagnosis of a mitochondrial disorder, such as muscle biopsy, mitochondrial DNA studies, and magnetic resonance imaging, were normal ...
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Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1986
An eight-year-old boy with Angelman-(Happy Puppet-)Syndrome is described. Nearly all typical symptoms of the syndrome, especially severe psychomotoric retardation with spontaneous outbursts of laughing and protrusions of the tongue, athetoid movements, typical electroencephalogram and microcephaly, could be found in our patient.
S W, Eber, S, Joost, M, Gabriel
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An eight-year-old boy with Angelman-(Happy Puppet-)Syndrome is described. Nearly all typical symptoms of the syndrome, especially severe psychomotoric retardation with spontaneous outbursts of laughing and protrusions of the tongue, athetoid movements, typical electroencephalogram and microcephaly, could be found in our patient.
S W, Eber, S, Joost, M, Gabriel
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2017
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the epigenetically imprinted gene UBE3A. It is characterized by severe developmental delay, an ataxic gait disorder, an apparent happy demeanor with frequent smiling or laughing, and severe expressive language impairments.
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Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the epigenetically imprinted gene UBE3A. It is characterized by severe developmental delay, an ataxic gait disorder, an apparent happy demeanor with frequent smiling or laughing, and severe expressive language impairments.
openaire +1 more source