Literature DB >> 5823673

Argininosuccinic aciduria: clinical, biochemical, anatomical and neuropathological observations.

G B Solitare, V E Shih, D J Nelligan, T F Dolan.   

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Year:  1969        PMID: 5823673     DOI: 10.1111/j.1365-2788.1969.tb01076.x

Source DB:  PubMed          Journal:  J Ment Defic Res        ISSN: 0022-264X


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  6 in total

1.  Spongy change in the brain.

Authors: 
Journal:  Br Med J       Date:  1972-08-19

2.  Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.

Authors:  N R Glick; P J Snodgrass; I A Schafer
Journal:  Am J Hum Genet       Date:  1976-01       Impact factor: 11.025

3.  Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum.

Authors:  E J Quackenbush; K H Kraemer; W A Gahl; V Schirch; D A Whiteman; K Levine; H L Levy
Journal:  J Inherit Metab Dis       Date:  1999-12       Impact factor: 4.982

4.  Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.

Authors:  Liyan Hu; Amit V Pandey; Cécile Balmer; Sandra Eggimann; Véronique Rüfenacht; Jean-Marc Nuoffer; Johannes Häberle
Journal:  J Inherit Metab Dis       Date:  2015-03-17       Impact factor: 4.982

5.  Argininosuccinic aciduria: prenatal studies in a family at risk.

Authors:  L D Fleisher; D K Rassin; R J Desnick; H R Salwen; P Rogers; M Bean; G E Gaull
Journal:  Am J Hum Genet       Date:  1979-07       Impact factor: 11.025

6.  Infantile spongy degeneration of the central nervous system associated with glycogen storage and markedly fatty liver.

Authors:  Y Takei; G B Solitare
Journal:  J Neurol Neurosurg Psychiatry       Date:  1972-02       Impact factor: 10.154

  6 in total

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