Literature DB >> 4421405

Cystinuria with mental retardation and paroxysmal dyskinesia in 2 brothers.

N P Cavanagh, J Bicknell, F Howard.   

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Year:  1974        PMID: 4421405      PMCID: PMC1648994          DOI: 10.1136/adc.49.8.662

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


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  11 in total

1.  SEIZURES INDUCED BY MOVEMENT: A FORM OF REFLEX EPILEPSY.

Authors:  C W WHITTY; W A LISHMAN; J P FITZGIBBON
Journal:  Lancet       Date:  1964-06-27       Impact factor: 79.321

Review 2.  AMINOACIDURIA.

Authors:  M L EFRON
Journal:  N Engl J Med       Date:  1965-05-20       Impact factor: 91.245

3.  Phenotypes and genotypes in cystinuria.

Authors:  H HARRIS; U MITTWOCH; E B ROBSON; F L WARREN
Journal:  Ann Hum Genet       Date:  1955-08       Impact factor: 1.670

4.  Seizure induced by movement.

Authors:  W A LISHMAN; C P SYMONDS; C W WHITTY; R G WILLISON
Journal:  Brain       Date:  1962-03       Impact factor: 13.501

5.  Aminoacid metabolism in cystinuria.

Authors:  C E DENT; G A ROSE
Journal:  Q J Med       Date:  1951-07

6.  The excretion of amino acids by cystinuric patients and their relatives.

Authors:  J C Crawhall; P Purkiss; R W Watts; E P Young
Journal:  Ann Hum Genet       Date:  1969-10       Impact factor: 1.670

7.  Cystinuria: increased prevalence in patients with mental disease.

Authors:  C R Scriver; D T Whelan; C L Clow; L Dallaire
Journal:  N Engl J Med       Date:  1970-10-08       Impact factor: 91.245

8.  Paraplegia associated with cystinuria.

Authors:  N K Banerji; J H Millar
Journal:  J Neurol Sci       Date:  1971-01       Impact factor: 3.181

9.  Paroxysmal choreo-athetosis. A form of reflex epilepsy.

Authors:  H Stevens
Journal:  Arch Neurol       Date:  1966-04

10.  Clinical, biochemical and histopathological findings in a family with muscular dystrophy.

Authors:  L J Hurwitz; A J Carson; I V Allen; T F Fannin; J A Lyttle; D W Neill
Journal:  Brain       Date:  1967-12       Impact factor: 13.501

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  2 in total

1.  Homozygous cystinuria and the oculo-cerebro-renal dystrophy of Lowe in same family.

Authors:  R R Bailey; R W Carrell; F T Shannon
Journal:  Arch Dis Child       Date:  1976-07       Impact factor: 3.791

2.  Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.

Authors:  Eun Ha Lee; Yeun Hee Kim; Jin Soon Hwang; Sung Hwan Kim
Journal:  J Korean Med Sci       Date:  2009-12-26       Impact factor: 2.153

  2 in total

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