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phenylketonurias/vomissement
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Severe acute pancreatitis in a child with phenylketonuria.
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We report for the first time severe acute pancreatitis in a child treated for phenylketonuria (PKU) discovered on neonatal screening. This 2-year-old boy was first hospitalized for bilious vomiting and moderate back pain. Laboratory values included a lipase level of 1.142 U/L, a phenylalanine level
[Lists of food exchanges for use in phenylketonuria and maple-syrup urine disease].
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Phenylketonuria (PKU) and maple syrup urine disease (MSUD) are disorders of the amino acid metabolism. Treatment of PKU and MSUD, is based on the restriction of the involved amino acids. Diet must begin very early in life in order to prevent neurological sequelae. A wrong dietary produce central
Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years.
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BH4 therapy is an advancement in the treatment of phenylketonuria, reducing blood phenylalanine (phe) levels and increasing tolerance to natural proteins of responding patients. We report the results of 16 patients undergoing long-term BH4 treatment. Responding patients to BH4 was usually based on
An Observational Study Evaluating the Introduction of a Prolonged-Release Protein Substitute to the Dietary Management of Children with Phenylketonuria
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Dietary restriction of phenylalanine combined with a protein substitute prevents intellectual disability in patients with phenylketonuria (PKU). However, current protein substitutes are associated with low adherence owing to unpalatability and burdensome administration regimens. This prospective,
Sapropterin: a review of its use in the treatment of primary hyperphenylalaninaemia.
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Sapropterin dihydrochloride (Kuvan), hereafter referred to as sapropterin, is a synthetic formulation of the active 6R-isomer of tetrahydrobiopterin, a naturally occurring cofactor for phenylalanine hydroxylase. In the EU, sapropterin is approved for the treatment of hyperphenylalaninaemia in
Utilisation of amino acid mixtures in adolescents with phenylketonuria.
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The nutritional regimen of patients with phenylketonuria (PKU) comprises a diet of natural proteins and phenylalanine (Phe)-free amino acid (AA) mixture. The main daily protein requirement is covered by a Phe-free AA mixture. In an adult with PKU, the consumption of the daily AA requirement in one
Ileus and Intra-Abdominal Hypertension due to Phosphate- Containing Enema.
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The most well known complications of fleet enema solution are cardiac insufficiency, renal failure, water-electrolyte imbalance, and ileus. A 7-y-old girl with phenylketonuria and long-term constipation was admitted to the emergency department with symptoms of seizure, vomiting and abdominal
[Congenital or neonatal cytomegalovirus infection?].
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Congenital Cytomegalovirus (CMV) infection occurs in about 1% of the newborns, but it is clinically unapparent in around 90% of the cases during the newborn period. This congenital infection may be the cause of neurological sequelae of variable severity, namely neuro-sensorial hearing loss. In most
Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia.
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Tetrahydrobiopterin (BH4) deficiencies are a heterogeneous group of disorders caused by a defect in two of the three enzymes involved in its biosynthesis or in the two recycling enzymes. Except for the deficiency of dehydratase, an enzyme catalyzing a reaction in the recycling pathway, all other
[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation].
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OBJECTIVE
To investigate the values of tandem mass spectrometry (MS/MS) in etiologic diagnosis and understanding therapeutic effect in cerebral developmental retardation, and to help patients in early diagnosis, treatment and favorable prognosis.
METHODS
One hundred and fifty-eight childhood
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China].
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OBJECTIVE
The new technology of tandem mass spectrometry is exerting a significant impact on the diagnostics of inborn metabolic errors, and allows to detect a number of these disorders in a single step. The aim of the present study was to establish a dry blood filter paper method for amino acid and
Infantile hypertrophic pyloric stenosis in Belfast, 1957-1969.
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Infants with hypertrophic pyloric stenosis born in Belfast during the 13 years 1957-1969 have been reviewed. Their distribution shows a bias towards higher social classes, breast feeding, and primogeniture. Obstetric factors and parental ages seem to be of no importance. More affected infants were
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