[The Brachmann-de Lang syndrome in 4 infants].
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De Lange Syndrome↗
Biomedical subjects
O Podhradská
Publications and source records attributed to O Podhradská.
[Determination of phenylalanine-4-hydroxylase as a parameter in the differential diagnosis of hyperphenylalaninemia].
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Child↗
[Metachromatic leukodystrophy with a familial incidence; prenatal diagnosis].
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Humans↗
[Maternal phenylketonuria. Psychopathological study of families].
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Adolescent↗
[Stomatologic problems in children with phenylketonuria].
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Adolescent↗
Psychic changes in phenylketonuric children at phenylalanine load.
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Adolescent↗
PKU locus: genetic linkage with human amylase (Amy) loci and assignment to linkage group I.
The linked alpha-amylase loci Amy 1 and Amy 2 were evaluated for their linkage relationship to the PKU locus using data collected from two (one Czech and one Polish) groups of families. The five sibships informative for Amy 1:PKU give a z score of 1.505 at theta = 0.00 and the eight sibships informative for Amy 2:PKU give a z score of 2.709 at theta = 0.00. Due to the tandem position of Amy 1 and Amy 2 loci, these data could be combined, and linkage between Amy and PKU loci established with a z score 4,214 at theta = 0.00. The practical significance of the linkage, especially for identifying PKU allele carriers, is emphasized.
Amylases↗
Controlled comparison of the effect of dosulepin and diazepam in hyperkinetic children with phenylketonuria.
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Child↗
[Detection of heterozygotes in the pedigrees of phenylketonurics using variants of amylase polymorphism].
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Alleles↗
[Report on a summer recreation camp for children with phenylketonuria].
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Camping↗
[Amylase polymorphism and phenylketonuria (author's transl)].
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Adult↗
[Relationship of urinary phenylpyruvate and o-hydroxyphenylacetate on serum phenylalanine level in patients with phenylketonuria treated by diet].
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Child↗
[Hyperglycinemia].
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Amino Acid Metabolism, Inborn Errors↗
[Treatment of phenylketonuria from the psychopatological aspect (preliminary study) (author's transl)].
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Adolescent↗
[Tyrosinosis].
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Amino Acid Metabolism, Inborn Errors↗
[Biochemical causes of mental retardation in phenylketonuria].
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Adolescent↗