Literature DB >> 5364721

Congenital ophthalmoplegia, floppy baby syndrome, myopathy, and aminoaciduria. Report of a family.

L J Hurwitz, N A Carson, I V Allen, J S Chopra.   

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Year:  1969        PMID： 5364721      PMCID： PMC496581          DOI： 10.1136/jnnp.32.6.495

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  41 in total

1.  DYSTROPHIA MYOTONICA PRESENTING AS CONGENITAL FACIAL DIPLEGIA.

Authors:  N PARKER
Journal:  Med J Aust       Date:  1963-12-07       Impact factor: 7.738

2.  REFRACTORY PERIOD OF MUSCLE AND ELECTROMYOGRAPHIC FINDINGS IN RELATIVES OF PATIENTS WITH MUSCULAR DYSTROPHY.

Authors:  G CARUSO; F BUCHTHAL
Journal:  Brain       Date:  1965-03       Impact factor: 13.501

3.  OBSERVATIONS ON THE PATHOLOGY OF THE MOEBIUS SYNDROME.

Authors:  S E PITNER; J E EDWARDS; W F MCCORMICK
Journal:  J Neurol Neurosurg Psychiatry       Date:  1965-08       Impact factor: 10.154

4.  Ocular myopathy sensitive to curare.

Authors:  R T ROSS
Journal:  Brain       Date:  1963-03       Impact factor: 13.501

5.  Congenital ophthalmoplegia. A myopathic aetiology in two siblings.

Authors:  L J Hurwitz; C J Maguire; T Fannin
Journal:  J Neurol Neurosurg Psychiatry       Date:  1968-08       Impact factor: 10.154

6.  Studies of the carrier state in the Duchenne type of muscular dystrophy. 2. Quantitative electromyography as a method of carrier detection.

Authors:  D Gardner-Medwin
Journal:  J Neurol Neurosurg Psychiatry       Date:  1968-04       Impact factor: 10.154

7.  Hyperdibasicaminoaciduria: an inherited disorder of amino acid transport.

Authors:  D T Whelan; C R Scriver
Journal:  Pediatr Res       Date:  1968-11       Impact factor: 3.756

8.  Endogenous renal clearance rates of free amino acids in pre-pubertal children. (Employing an accelerated procedure for elution chromatography of basic amino acids on ion exchange resin).

Authors:  C R Scriver; E Davies
Journal:  Pediatrics       Date:  1965-10       Impact factor: 7.124

9.  Protein intolerance with deficient transport of basic aminoacids. Another inborn error of metabolism.

Authors:  J Perheentupa; J K Visakorpi
Journal:  Lancet       Date:  1965-10-23       Impact factor: 79.321

10.  Urinary excretion of free amino acids in normal adult men and women.

Authors:  P SOUPART
Journal:  Clin Chim Acta       Date:  1959-03       Impact factor: 3.786
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  4 in total

1.  Muscular dystrophy in Northern Ireland. Paper chromatographic survey of urinary aminoacids.

Authors:  L J Hurwitz; D McCormick
Journal:  Ir J Med Sci       Date:  1971-12       Impact factor: 1.568

2.  Paper chromatographic survey of urinary amino-acids in muscular dystrophy.

Authors:  L J Hurwitz; D McCormick
Journal:  Br Med J       Date:  1970-07-04

3.  A new polygenic disturbance: cystinuria, leucinuria and spinal muscular atrophy.

Authors:  H Radu; I Tanase-Mogoş; A M Roşu; I Killyen; V Ionescu
Journal:  J Neurol       Date:  1974       Impact factor: 4.849

4.  Abnormalities of muscle fibers in maple syrup urine disease.

Authors:  G Ferrière; M de Castro; J Rodriguez
Journal:  Acta Neuropathol       Date:  1984       Impact factor: 17.088
  4 in total

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