Literature DB >> 13981250

Skeletal muscle glycogenosis: an investigation of two dissimilar cases.

W H THOMSON, J C MACLAURIN, J W PRINEAS.   

Abstract

Entities:  

Keywords:  GLYCOGENOSIS; MUSCULAR DISEASES

Mesh：

Year:  1963        PMID： 13981250      PMCID： PMC495536          DOI： 10.1136/jnnp.26.1.60

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


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  19 in total

1.  Sources of error in the biochemical diagnosis of muscular dystrophy.

Authors:  W A THOMSON
Journal:  J Neurol Neurosurg Psychiatry       Date:  1962-08       Impact factor: 10.154

2.  Glycogen storage disease of the muscles. Report of a case with unusual features.

Authors:  P A DI SANT'AGNESE; D H ANDERSEN; K M METCALF
Journal:  J Pediatr       Date:  1962-09       Impact factor: 4.406

3.  Glycogen metabolism.

Authors:  D STETTEN; M R STETTEN
Journal:  Physiol Rev       Date:  1960-07       Impact factor: 37.312

4.  A metabolic myopathy due to absence of muscle phosphorylase.

Authors:  C M PEARSON; D G RIMER; W F MOMMAERTS
Journal:  Am J Med       Date:  1961-04       Impact factor: 4.965

5.  A uridine coenzyme-linked pathway of glycogen synthesis in muscle.

Authors:  C VILLAR-PALASI; J LARNER
Journal:  Biochim Biophys Acta       Date:  1958-11

6.  Serum enzyme activity in muscular dystrophy.

Authors:  W H THOMSON; P LEYBURN; J N WALTON
Journal:  Br Med J       Date:  1960-10-29

7.  Amylo-1, 6-glucosidase in muscle tissue in generalized glycogen storage disease.

Authors:  B ILLINGWORTH; G T CORI; C F CORI
Journal:  J Biol Chem       Date:  1956-01       Impact factor: 5.157

8.  Familial cirrhosis of the liver with storage of abnormal glycogen.

Authors:  D H ANDERSEN
Journal:  Lab Invest       Date:  1956 Jan-Feb       Impact factor: 5.662

9.  Spectrophotometric determination of fructose-1:6-diphosphate, hexosemonophosphates, adenosinetriphosphate and adenosinediphosphate.

Authors:  E C SLATER
Journal:  Biochem J       Date:  1953-01       Impact factor: 3.857
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  13 in total

1.  HEREDITARY METABOLIC MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS.

Authors:  L E LARSSON; H LINDERHOLM; R MUELLER; T RINGQVIST; R SOERNAES
Journal:  J Neurol Neurosurg Psychiatry       Date:  1964-10       Impact factor: 10.154

2.  Skeletal muscle glycogenosis type II: biochemical and electron microscopic investigations of one case.

Authors:  N Canal; L Frattola; G Pellegrini
Journal:  Z Neurol       Date:  1972

Review 3.  The histochemical evaluation of the glycogen storage diseases. A review of techniques and their limitations.

Authors:  B D Lake
Journal:  Histochem J       Date:  1970-09

4.  [Myopathy due to acid maltase deficiency. Pompe's disease in adolescence and adult (author's transl)].

Authors:  H W Kölmel; H Assmus; D Seiler
Journal:  Arch Psychiatr Nervenkr (1970)       Date:  1974

5.  Liver glycogenosis and cataracts in a mentally deficient child.

Authors:  I de Loore; H H van Gelderen
Journal:  Arch Dis Child       Date:  1967-08       Impact factor: 3.791

6.  Exercise-induced pain, stiffness, and tubular aggregation in skeletal muscle.

Authors:  R A Brumback; R D Staton; M E Susag
Journal:  J Neurol Neurosurg Psychiatry       Date:  1981-03       Impact factor: 10.154

Review 7.  The glycogen storage diseases.

Authors:  B E Ryman
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

8.  [Diagnostic significance of muscle biopsies in metabolic myopathies. II. Clinical biochemistry].

Authors:  T Deufel; I Paetzke; D Pongratz; G Hübner; O H Wieland
Journal:  Klin Wochenschr       Date:  1984-07-16

Review 9.  Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG.

Authors:  Eva Morava
Journal:  Mol Genet Metab       Date:  2014-06-21       Impact factor: 4.797

10.  Multiple phenotypes in phosphoglucomutase 1 deficiency.

Authors:  Laura C Tegtmeyer; Stephan Rust; Monique van Scherpenzeel; Bobby G Ng; Marie-Estelle Losfeld; Sharita Timal; Kimiyo Raymond; Ping He; Mie Ichikawa; Joris Veltman; Karin Huijben; Yoon S Shin; Vandana Sharma; Maciej Adamowicz; Martin Lammens; Janine Reunert; Anika Witten; Esther Schrapers; Gert Matthijs; Jaak Jaeken; Daisy Rymen; Tanya Stojkovic; Pascal Laforêt; François Petit; Olivier Aumaître; Elzbieta Czarnowska; Monique Piraud; Teodor Podskarbi; Charles A Stanley; Reuben Matalon; Patricie Burda; Soraya Seyyedi; Volker Debus; Piotr Socha; Jolanta Sykut-Cegielska; Francjan van Spronsen; Linda de Meirleir; Pietro Vajro; Terry DeClue; Can Ficicioglu; Yoshinao Wada; Ron A Wevers; Dieter Vanderschaeghe; Nico Callewaert; Ralph Fingerhut; Emile van Schaftingen; Hudson H Freeze; Eva Morava; Dirk J Lefeber; Thorsten Marquardt
Journal:  N Engl J Med       Date:  2014-02-06       Impact factor: 91.245
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