Results 201 to 210 of about 68,473 (259)

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability [PDF]

American Journal of Human Genetics, 2017
Yair Anikster, Tobias B Haack, Ben Pode-Shakked   +2 more
exaly   +2 more sources

Mild hyperphenylalaninemia: to treat or not to treat [PDF]

Journal of Inherited Metabolic Disease, 2011
Francjan J. van Spronsen
exaly   +2 more sources

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Paternal Hyperphenylalaninemia

Pediatrics, 1986
In an article published in 1981 that reported on semen studies in four men with phenylketonuria (PKU), it was concluded that semen volumes were significantly reduced. However, the index case should not have been included in the statistical analyses. In the other three cases, the men with PKU had smaller semen volumes than did the four control medical ...
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Hyperphenylalaninemia and birth weight

Annales de Génétique, 2002
Hyperphenylalaninemias (HPAs) are due to autosomal recessive inherited deficiency of phenylalanine hydroxylase and include three different biochemical and clinical phenotypes: classic phenylketonuria, mild phenylketonuria and persistent HPA. Recently the relationship between birth weight and HPA has been investigated.
Sebastiano, Bianca, Concetta, Meli, Barbara, Barrano, Florindo, Mollica   +3 more
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Maternal hyperphenylalaninemia fetal effects

The Journal of Pediatrics, 1984
Thirty-four children of 11 mothers with untreated hyperphenylalaninemia had a pattern of malformation consisting of prenatal and postnatal growth retardation, microcephaly and central nervous system dysfunction, increased incidence of malformations, and a peculiar facial appearance.
A, Lipson, B, Beuhler, J, Bartley, D, Walsh, J, Yu, M, O'Halloran, W, Webster   +6 more
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Hyperphenylalaninemia with defective transamination

Clinica Chimica Acta, 1983
Blood phenylalanine concentrations in a female neonate increased slowly to a level at which dietary phenylalanine restriction became necessary. At this point the patient's urinary aromatic acid excretion profile showed only minimal amounts of phenylpyruvic acid or related aromatic acids.
K, Blau, G A, Levitt, D R, Harvey
openaire   +2 more sources