(Q39685571)

14 September 2017

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title

Atypical cases of phenylketonuria (English)

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14 September 2017

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J L Dhondt

1

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14 September 2017

J P Farriaux

series ordinal

2

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14 September 2017

publication date

1 January 1987

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European Journal of Pediatrics

14 September 2017

published in

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14 September 2017

volume

146 Suppl 1

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14 September 2017

page(s)

A38-43

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https://scigraph.springernature.com/pub.10.1007/bf00442055

14 September 2017

exact match

0 references

cites work

Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00442055

Current status of biopterin screening

21 January 2018

1 reference

12 December 2020

Malignant hyperphenylalaninaemia—Current status (June 1977)

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12 December 2020

Letter: A new molecular defect in phenylketonuria

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12 December 2020

Partial deficiency of tetrahydrobiopterin

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12 December 2020

Hepatic phenylalanine hydroxylase activity in hyperphenylalaninaemia

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12 December 2020

Diagnostic and therapeutic aspects of dihydrobiopterin deficiency

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12 December 2020

Kinetics of phenylalanine disappearance after intravenous load in phenylketonuria and its genetic variants

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12 December 2020

Letter: L-dopa and 5-hydroxytryptophan therapy in phenylketonuria with normal phenylalanine-hydroxylase activity

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12 December 2020

Dihydrobiopterin biosynthesis deficiency

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12 December 2020

Oral versus intravenous L-phenylalanine loading compared by simultaneous application of L-[2H5] and L-[15N]phenylalanine

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12 December 2020

Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver

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12 December 2020

New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction

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12 December 2020

Phenylalaninaemia. Differential diagnosis

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12 December 2020

Birthweight in patients with defective biopterin metabolism

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12 December 2020

The use of deuterated phenylalanine for the in vivo assay of phenylalanine hydroxylase activity in children

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12 December 2020

In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants

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12 December 2020

Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test.

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12 December 2020

Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin

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12 December 2020

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood

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12 December 2020

Unconjugated pteridines in human milk

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12 December 2020

Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein

1 reference

12 December 2020

Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man

1 reference

12 December 2020

Transient hyperphenylalaninaemia with a high neopterin to biopterin ratio in urine

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12 December 2020

Neurological aspects of biopterin metabolism

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12 December 2020

Biopterin synthesis defects: problems in diagnosis

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12 December 2020

Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey

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12 December 2020

Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis

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12 December 2020

Aromatic acids in urine of healthy infants, persistent hyperphenylalaninemia, and phenylketonuria, before and after phenylalanine load

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12 December 2020

Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia

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12 December 2020

[An attempt at classification of the hyperphenylalaninemias. Apropos of 62 patients]

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12 December 2020

Use of tetrahydropterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: evidence that peripherally administered tetrahydropterins enter the brain.

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12 December 2020

Compound heterozygotes in hyperphenylalaninaemia

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12 December 2020

A mild case of dihydropteridine reductase deficiency with residual activity in erythrocytes

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12 December 2020

Standardized loading test with protein for the differentiation of phenylketonuria from hyperphenylalaninaemia

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12 December 2020

Diagnosis of phenylalanine hydroxylase deficiency (phenylketonuria)

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12 December 2020

Identifiers

DOI

10.1007/BF00442055

1 reference

14 September 2017

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