Literature DB >> 14213465

HEREDITARY METABOLIC MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS.

L E LARSSON, H LINDERHOLM, R MUELLER, T RINGQVIST, R SOERNAES.   

Abstract

Keywords:  BLOOD CHEMICAL ANALYSIS; CARBOHYDRATE METABOLISM; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; EXERCISE TEST; EXERTION; GENETICS, HUMAN; GLYCOLYSIS; HEART CATHETERIZATION; HEMODYNAMICS; METABOLISM, INBORN ERRORS; MUSCULAR DISEASES; MYOGLOBINURIA; NEUROLOGIC EXAMINATION; RESPIRATORY FUNCTION TESTS; URINE

Mesh：

Year:  1964        PMID： 14213465      PMCID： PMC495765          DOI： 10.1136/jnnp.27.5.361

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


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  31 in total

1.  Paroxysmal myoglobinuria.

Authors:  M C BERENBAUM; C A BIRCH; J D MORELAND
Journal:  Lancet       Date:  1955-04-30       Impact factor: 79.321

2.  [The glycolytic erzyme pattern in the liver, kidney, skeletal muscle, heart muscle and brain of rats and mice].

Authors:  H EPPENBERGER; R RICHTERICH; H AEBI
Journal:  Biochem Z       Date:  1962

3.  Idiopathic paroxysmal myoglobinuria; report of two cases occurring in sisters. Review of the literature.

Authors:  M S WHEBY; H S MILLER
Journal:  Am J Med       Date:  1960-10       Impact factor: 4.965

4.  Idiopathic paroxysmal myoglobinuria. Report of a case with Med

Authors:  J JAVID; H I HOROWITZ; A R SANDERS; T H SPAET
Journal:  AMA Arch Intern Med       Date:  1959-10

5.  Circulatory data in normal subjects at rest and during exercise in recumbent position, with special reference to the stroke volume at different work intensities.

Authors:  A HOLMGREN; B JONSSON; T SJOSTRAND
Journal:  Acta Physiol Scand       Date:  1960-08-25

6.  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

7.  Oxygen utilization and lactic acid formation in the legs at rest and during exercise in normal subjects and in patients with arteriosclerosis obliterans.

Authors:  L A CARLSON; B PERNOW
Journal:  Acta Med Scand       Date:  1959-05-20

8.  Familial paroxysmal paralytic myoglobinuria.

Authors:  T E FITZ
Journal:  W V Med J       Date:  1957-07

9.  Acute recurrent rhabdomyolysis (paroxysmal myohaemoglobinuria); a report of three cases and a review of the literature.

Authors:  D H BOWDEN; D FRASER; S H JACKSON; N F WALKER
Journal:  Medicine (Baltimore)       Date:  1956-12       Impact factor: 1.889

10.  Electrophoretic properties of myoglobin and its character in sickle-cell diseases and paroxysmal myoglobinuria.

Authors:  T A PRANKERD
Journal:  Br J Haematol       Date:  1956-01       Impact factor: 6.998
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  26 in total

1.  Exertional dyspnea in mitochondrial myopathy: clinical features and physiological mechanisms.

Authors:  Katja Heinicke; Tanja Taivassalo; Phil Wyrick; Helen Wood; Tony G Babb; Ronald G Haller
Journal:  Am J Physiol Regul Integr Comp Physiol       Date:  2011-08-03       Impact factor: 3.619

2.  Blood lactate threshold and type II fibre predominance in patients with exertional heatstroke.

Authors:  Y D Hsu; W H Lee; M K Chang; S D Shieh; W L Tsao
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-02       Impact factor: 10.154

Review 3.  Idiopathic rhabdomyolysis.

Authors:  D C Savage; M Forbes; G W Pearce
Journal:  Arch Dis Child       Date:  1971-10       Impact factor: 3.791

Review 4.  Metabolic myopathy.

Authors:  P K Thomas
Journal:  Postgrad Med J       Date:  1967-02       Impact factor: 2.401

5.  An automated method for the frequency analysis of myoelectric signals evaluated by an investigation of the spectral changes following strong sustained contractions.

Authors:  S Johansson; L E Larsson; R Ortengren
Journal:  Med Biol Eng       Date:  1970-05

6.  Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell lines.

Authors:  Gregory P Holmes-Hampton; Daniel R Crooks; Ronald G Haller; Shuling Guo; Susan M Freier; Brett P Monia; Tracey A Rouault
Journal:  Hum Mol Genet       Date:  2016-12-01       Impact factor: 6.150

7.  Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins.

Authors:  R E Hall; K G Henriksson; S F Lewis; R G Haller; N G Kennaway
Journal:  J Clin Invest       Date:  1993-12       Impact factor: 14.808

8.  Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy.

Authors:  Daniel R Crooks; Suh Young Jeong; Wing-Hang Tong; Manik C Ghosh; Hayden Olivierre; Ronald G Haller; Tracey A Rouault
Journal:  J Biol Chem       Date:  2012-10-03       Impact factor: 5.157

9.  Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery.

Authors:  Daniel R Crooks; Manik C Ghosh; Ronald G Haller; Wing-Hang Tong; Tracey A Rouault
Journal:  Blood       Date:  2009-11-25       Impact factor: 22.113

10.  The presence of multiple cellular defects associated with a novel G50E iron-sulfur cluster scaffold protein (ISCU) mutation leads to development of mitochondrial myopathy.

Authors:  Prasenjit Prasad Saha; S K Praveen Kumar; Shubhi Srivastava; Devanjan Sinha; Gautam Pareek; Patrick D'Silva
Journal:  J Biol Chem       Date:  2014-02-26       Impact factor: 5.157
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