Literature DB >> 475407

Diagnosis of malignant hyperphenylalaninaemia.

D M Danks, R G Cotton, P Schlesinger.   

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Year:  1979        PMID: 475407      PMCID: PMC1545571          DOI: 10.1136/adc.54.5.329

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


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  9 in total

1.  Malignant hyperphenylalaninaemia--current status (June 1977).

Authors:  D M Danks; K Bartholomé; B E Clayton; H Curtius; H Gröbe; S Kaufman; R Leeming; W Pfleiderer; H Rembold; F Rey
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

2.  Pteridines and phenylketonuria: report of a workshop: Introductory comments.

Authors:  D M Danks
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

3.  Phenylketonuria due to a deficiency of dihydropteridine reductase.

Authors:  S Kaufman; N A Holtzman; S Milstien; L J Butler; A Krumholz
Journal:  N Engl J Med       Date:  1975-10-16       Impact factor: 91.245

4.  A disorder of biogenic amines in dihydropteridine reductase deficiency.

Authors:  I J Butler; S H Koslow; A Krumholz; N A Holtzman; S Kaufman
Journal:  Ann Neurol       Date:  1978-03       Impact factor: 10.422

5.  Letter: Variant forms of phenylketonuria.

Authors:  D M Danks; R G Cotton; P Schlesinger
Journal:  Lancet       Date:  1976-06-05       Impact factor: 79.321

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

Authors:  K Bartholomé; D J Byrd
Journal:  Lancet       Date:  1975-11-22       Impact factor: 79.321

7.  Urinary dihydroxanthopterin in the diagnosis of malignant hyperphenylalaninemia and phenylketonuria.

Authors:  P Schlesinger; B M Watson; R G Cotton; D M Danks
Journal:  Clin Chim Acta       Date:  1979-03-01       Impact factor: 3.786

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

Authors:  I Smith; B E Clayton; O H Wolff
Journal:  Lancet       Date:  1975-05-17       Impact factor: 79.321

9.  Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis.

Authors:  J Schaub; S Däumling; H C Curtius; A Niederwieser; K Bartholomé; M Viscontini; B Schircks; J H Bieri
Journal:  Arch Dis Child       Date:  1978-08       Impact factor: 3.791

  9 in total
  3 in total

1.  Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.

Authors:  A Ponzone; O Guardamagna; M Spada; S Ferraris; R Ponzone; L Kierat; N Blau
Journal:  Eur J Pediatr       Date:  1993-08       Impact factor: 3.183

2.  Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias.

Authors:  U Langenbeck
Journal:  J Inherit Metab Dis       Date:  2008-01-22       Impact factor: 4.982

3.  Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis".

Authors:  C R Scriver; D E Cole; S A Houghton; H L Levy; A Grenier; C Laberge
Journal:  Proc Natl Acad Sci U S A       Date:  1980-10       Impact factor: 11.205

  3 in total

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