Search Results - "BLEHOVA, B"
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1
Robertsonian translocation between the chromosome Y and 15
Published in Human genetics (01-01-1974)Get full text
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2
Serotonin and dopamine synthesis in phenylketonuria
Published in Advances in experimental medicine and biology (1981)“…Two regulation systems of the serotonin and dopamine biosynthesis in patients with classical and atypical PKU were investigated. In classical PKU, the…”
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3
Further observations on a previously reported case of 4p--syndrome
Published in Human genetics (01-01-1972)Get full text
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4
Dicentric chromosome due to an unusual fusion
Published in Human genetics (01-01-1971)Get full text
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5
Trisomy 9p resulting from maternal 9/21 translocation
Published in Human genetics (19-05-1976)“…The clinical picture found in a child with trisomy 9p confirmed that this chromosomal syndrome is a entity, which arises from maternal translocation t(9;21)…”
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6
Aberrant chromosome 13-15 in a patient with Down's syndrome, diabetes mellitus and hyperthyroidism and in his father
Published in Acta genetica et statistica medica (01-01-1968)Get more information
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7
Gargoylism with normal intelligence
Published in Československá pediatrie (01-02-1963)Get more information
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8
Tietzův syndrom
Published in Československá pediatrie (05-07-1957)Get more information
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9
Oligophrenia and congenital metabolic disorders
Published in Ceskoslovenska neurologie (01-06-1960)Get more information
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10
Phenylketonuria associated with Down's syndrome
Published in Journal of mental deficiency research (01-12-1970)Get more information
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11
Pentosuria in a non-thriving child
Published in Československá pediatrie (1980)Get more information
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12
The use of penicillamine as a diagnostic aid in hepatolenticular degeneration (Wilson's disease)
Published in Československá pediatrie (01-09-1961)Get more information
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13
Hyperprolinuria
Published in Československá pediatrie (01-07-1974)Get more information
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14
Excretion of 17-ketosteroids in hepatolenticular degeneration
Published in Endokrinologie (01-01-1962)Get more information
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15
Melanogenesis in hair of phenylketonurics (author's transl)
Published in Sbornik lekarsky (01-06-1979)Get more information
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16
Treatment of Wilson's disease with penicillamine and guajacuran
Published in Ceskoslovenska neurologie (01-01-1963)Get more information
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17
Pubertas praecox after recovery from basilar meningitis
Published in Československá pediatrie (01-12-1961)Get more information
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18
Excretion of pterins in phenylketonuria and phenylketonuria variants
Published in Helvetica paediatrica acta (01-09-1980)“…Total urinary biopterin (B), neopterin (Ne) and monapterin (M) were measured in 25 healthy newborns, children and adults, in 49 patients with phenylketonuria…”
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19
New approach to the treatment of mucopolysaccharidoses by plasma and leucocyte transfusions
Published in Review of Czechoslovak medicine (1973)Get more information
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20
Some problems of mucopolysaccharidosis
Published in Review of Czechoslovak medicine (1972)Get more information
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