(Q42952934)

11 November 2017

Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values (English)

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11 November 2017

4

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11 November 2017

Thomas Opladen

1

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11 November 2017

Jürgen G Okun

series ordinal

2

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11 November 2017

Peter Burgard

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3

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11 November 2017

Georg F Hoffmann

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5

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11 November 2017

29 July 2010

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Journal of Inherited Metabolic Disease

11 November 2017

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11 November 2017

33

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11 November 2017

6

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11 November 2017

697-703

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9164-9

11 November 2017

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cites work

The phenylalanine loading test in the differential diagnosis of dystonia

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-010-9164-9

Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test

21 January 2018

1 reference

12 December 2020

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

1 reference

12 December 2020

Tetrahydrobiopterin biosynthesis, regeneration and functions

1 reference

12 December 2020

Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.

1 reference

12 December 2020

Dopa-responsive dystonia: A clinical and molecular genetic study

1 reference

12 December 2020

Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency

1 reference

12 December 2020

Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis

1 reference

12 December 2020

Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?

1 reference

12 December 2020

Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper

1 reference

12 December 2020

Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.

1 reference

12 December 2020

Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).

1 reference

12 December 2020

Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test

1 reference

12 December 2020

10.1007/S10545-010-9164-9

Identifiers

DOI

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Dimensions Publication ID

11 November 2017

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