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lactic acid and Glycogen Storage Disease Type V

lactic acid has been researched along with Glycogen Storage Disease Type V in 40 studies

Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)
2-hydroxypropanoic acid : A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.

Glycogen Storage Disease Type V: Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.

Research Excerpts

ExcerptRelevanceReference
"During constant work-rate exercise above the lactic acidosis threshold, oxygen consumption fails to plateau by 3 minutes, but continues to rise slowly."3.72Gas exchange responses to constant work-rate exercise in patients with glycogenosis type V and VII. ( Lovell, S; Nicholls, DP; O'Dochartaigh, CS; Ong, HY; Patterson, VH; Riley, MS; Wasserman, K, 2004)
" Needle muscle biopsy specimens for biochemical measurement were obtained before and immediately after maximal short-term bicycle exercise test from 12 patients suffering from autosomal dominant and recessive forms of progressive external ophthalmoplegia and multiple deletions of mitochondrial DNA (adPEO, arPEO, respectively), five patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) 3243 A-->G point mutation, and four patients with McArdle's disease."3.71ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and McArdle's disease. ( Härkönen, M; Lindholm, H; Löfberg, M; Majander, A; Näveri, H; Paetau, A; Somer, H; Sovijärvi, A; Suomalainen, A, 2001)
"Nine participants with McArdle disease were included in the study."3.30Repeated oral sucrose dosing after the second wind is unnecessary in patients with McArdle disease: Results from a randomized, placebo-controlled, double-blind, cross-over study. ( Khawajazada, T; Løkken, N; Slipsager, A; Vissing, J; Voermans, NC, 2023)
"Participants were four patients with McArdle disease and seven healthy subjects."2.80Lactate and Energy Metabolism During Exercise in Patients With Blocked Glycogenolysis (McArdle Disease). ( Haller, RG; Hauerslev, S; Heinicke, K; Jeppesen, TD; Preisler, N; Taivassalo, T; van Hall, G; Vissing, J; Ørngreen, MC, 2015)
"Patients with muscle phosphofructokinase deficiency are unable to achieve a spontaneous second wind under conditions that consistently produce one in patients with McArdle's disease."2.71No spontaneous second wind in muscle phosphofructokinase deficiency. ( Haller, RG; Vissing, J, 2004)
"Nine patients with McArdle disease, one with the partial glycolytic defect phosphoglycerate mutase deficiency, and nine matched, healthy subjects performed the classic ischemic forearm protocol and an identical protocol without ischemia."2.70A nonischemic forearm exercise test for McArdle disease. ( Haller, RG; Jensen, TD; Kazemi-Esfarjani, P; Skomorowska, E; Vissing, J, 2002)
"Blocked glycogen breakdown in McArdle disease impairs oxidative as well as anaerobic metabolism, but the contribution of impaired oxidative phosphorylation to everyday symptoms of McArdle disease remains poorly defined."2.70Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms. ( Haller, RG; Vissing, J, 2002)
"McArdle disease is an autosomal recessive condition caused by deficiency of the PYGM gene-encoded muscle isoform of glycogen phosphorylase."1.48Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins. ( Almendrote, M; Ara, I; Arenas, J; Ballester-Lopez, A; Coenen, D; Coll-Cantí, J; de Castro, M; Koehorst, E; Linares-Pardo, I; Lucente, G; Lucia, A; Martín, MA; Martínez-Piñeiro, A; Nogales-Gadea, G; Núñez-Manchón, J; Pintos-Morell, G; Ramos-Fransi, A; Rodriguez-Lopez, C; Santalla, A; Santos-Lozano, A, 2018)
"McArdle disease is due to an absence of the enzyme muscle glycogen phosphorylase and results in significant physical impairment in humans."1.42Investigating sodium valproate as a treatment for McArdle disease in sheep. ( Creed, KE; Dunton, E; Howell, JM; Quinlivan, R; Sewry, C, 2015)
"The two patients with atypical McArdle disease carried common mutations on one allele (R50X and G205S), and novel splice mutations in introns 3 [IVS3-26A>G (c."1.35Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease. ( Duno, M; Haller, RG; Schwartz, M; Vissing, J, 2009)
"Patients with McArdle disease are unable to produce lactate in response to exercise and thus offer a unique model to assess the role of lactate in the EIGR."1.35The role of lactate in the exercise-induced human growth hormone response: evidence from McArdle disease. ( Buckley, J; Godfrey, RJ; Quinlivan, R; Whyte, GP, 2009)
"A 9-year-old boy with McArdle disease, who demonstrated remarkable recovery of objectively measured exercise tolerance after 1 year of follow-up, during which he pursued age-appropriate physical activities."1.35One-year follow-up in a child with McArdle disease: exercise is medicine. ( Arenas, J; Foster, C; González-Freire, M; Lucia, A; Pérez, M, 2008)
"Myasthenia gravis was diagnosed at 24 years of age."1.34Double trouble (McArdle's disease and myasthenia gravis): how can exercise help? ( Arenas, J; Foster, C; Gutiérrez-Rivas, E; Lucia, A; Maté-Muñoz, JL; Pérez, M, 2007)
"1."1.31The exercise metaboreflex is maintained in the absence of muscle acidosis: insights from muscle microdialysis in humans with McArdle's disease. ( Haller, RG; MacLean, DA; Saltin, B; Sander, M; Vissing, J; Vissing, SF, 2001)
"Patients with McArdle's disease cycled for 11-13 min at submaximal (40 W) rates, and to fatigue at maximal work rates of 60-90 W."1.29Tricarboxylic acid cycle intermediates during incremental exercise in healthy subjects and in patients with McArdle's disease. ( Haller, RG; Henriksson, KG; Jorfeldt, L; Lewis, SF; Sahlin, K, 1995)
"A 64-year-old female with McArdle's disease and non-insulin-dependent diabetes mellitus (NIDDM) is reported."1.29McArdle's disease with non-insulin-dependent diabetes mellitus: the beneficial effects of hyperglycemia and hyperinsulinemia for exercise intolerance. ( Amano, K; Ichikawa, Y; Kono, N; Maruyama, H; Nakamoto, S; Saruta, T; Takei, I; Yamauchi, A, 1996)
"Five patients with McArdle's disease and five patients with mitochondrial myopathies performed the same incremental maximal exercise test."1.28Exercise intolerance in patients with McArdle's disease or mitochondrial myopathies. ( Camus, F; Chaussain, M; Defoligny, C; Eymard, B; Fardeau, M, 1992)
"McArdle disease is reported in three generations of a consanguineous Druze family."1.28McArdle disease in a Druze family. ( Sadeh, M; Sarova-Pinhas, I, 1989)
"Three patients with McArdle's disease exercised for 2 h at 30% VO2max."1.27The second wind phenomenon in McArdle's disease. ( Binkhorst, RA; Braakhekke, JP; de Bruin, MI; Joosten, EM; Stegeman, DF; Wevers, RA, 1986)

Research

Studies (40)

TimeframeStudies, this research(%)All Research%
pre-19908 (20.00)18.7374
1990's9 (22.50)18.2507
2000's18 (45.00)29.6817
2010's4 (10.00)24.3611
2020's1 (2.50)2.80

Authors

AuthorsStudies
Løkken, N1
Khawajazada, T1
Slipsager, A1
Voermans, NC1
Vissing, J13
Núñez-Manchón, J1
Ballester-Lopez, A1
Koehorst, E1
Linares-Pardo, I1
Coenen, D1
Ara, I1
Rodriguez-Lopez, C1
Ramos-Fransi, A1
Martínez-Piñeiro, A1
Lucente, G1
Almendrote, M1
Coll-Cantí, J1
Pintos-Morell, G1
Santos-Lozano, A1
Arenas, J3
Martín, MA1
de Castro, M1
Lucia, A3
Santalla, A1
Nogales-Gadea, G1
Howell, JM1
Dunton, E1
Creed, KE1
Quinlivan, R2
Sewry, C1
Ørngreen, MC2
Jeppesen, TD2
Taivassalo, T1
Hauerslev, S1
Preisler, N1
Heinicke, K1
Haller, RG10
van Hall, G1
Joshi, PR1
Apitz, T1
Zierz, S1
Duno, M1
Schwartz, M1
Kazemi-Esfarjani, P2
Skomorowska, E2
Jensen, TD2
Lindner, A1
Lindholm, H2
Löfberg, M2
Somer, H2
Näveri, H2
Sovijärvi, A2
Ong, HY1
O'Dochartaigh, CS1
Lovell, S1
Patterson, VH2
Wasserman, K1
Nicholls, DP2
Riley, MS1
Livingstone, C1
Al Riyami, S1
Wilkins, P1
Ferns, GA1
Maté-Muñoz, JL1
Pérez, M2
Foster, C2
Gutiérrez-Rivas, E1
Godfrey, RJ1
Whyte, GP1
Buckley, J1
González-Freire, M1
Schelhaas, HJ1
Akman, HO1
Wevers, RA2
Andersen, ST1
ter Laak, HJ1
van Diggelen, OP1
DiMauro, S1
Mineo, I2
Kono, N3
Shimizu, T2
Sumi, S2
Nonaka, K2
Tarui, S2
Rumpf, KW1
Wagner, H1
Kaiser, H1
Meinck, HM1
Goebel, HH1
Scheler, F1
Hagberg, JM2
Coyle, EF1
Carroll, JE1
Miller, JM1
Martin, WH1
Brooke, MH1
Sahlin, K1
Jorfeldt, L1
Henriksson, KG1
Lewis, SF2
Yamauchi, A1
Amano, K1
Ichikawa, Y1
Nakamoto, S1
Takei, I1
Maruyama, H1
Saruta, T1
Campbell, NP1
Stevenson, HP1
Vissing, SF2
MacLean, DA2
Saltin, B2
Quistorff, B1
Vanuxem, D1
Delpierre, S1
Fauvelle, E1
Guillot, C1
Vanuxem, P1
Zaman, Z1
De Raedt, S1
Majander, A1
Suomalainen, A1
Paetau, A1
Härkönen, M1
Sander, M1
Nielsen, JN1
Wojtaszewski, JF1
Hardie, DG1
Kemp, BE1
Richter, EA1
Chaussain, M1
Camus, F1
Defoligny, C1
Eymard, B1
Fardeau, M1
Galbo, H1
Wagner, DR1
Zöllner, N1
King, DS1
Rogers, MA1
Montain, SJ1
Jilka, SM1
Kohrt, WM1
Heller, SL1
Sarova-Pinhas, I1
Sadeh, M1
Braakhekke, JP1
de Bruin, MI1
Stegeman, DF1
Binkhorst, RA1
Joosten, EM1
van Riet, W1
de Meirsman, J1
de Saedeleer, J1
Dom, R1
Carton, H1
van den Heede, J1
Bulcke, JA1
Hara, N1
Yamada, Y1
Williams, J1
Hosking, G1

Clinical Trials (3)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
A Phase II Pilot Study to Explore Treatment With Sodium Valproate in Adults With McArdle Disease (Glycogen Storage Disorder Type V, GSDV)[NCT03112889]Phase 28 participants (Anticipated)Interventional2015-01-31Completed
Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies[NCT02448667]15 participants (Anticipated)Interventional2015-01-31Recruiting
Triheptanoin's Effect on Fatty Acid Oxidation and Exercise Tolerance in Patients With Debrancher Deficiency, Glycogenin-1 Deficiency and Phosphofructoinase Deficiency at Rest and During Exercise. A Randomized, Double-blind, Placebo-controlled, Cross-over [NCT03642860]Phase 23 participants (Actual)Interventional2018-08-15Terminated (stopped due to Problems with recruitment)
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Trials

5 trials available for lactic acid and Glycogen Storage Disease Type V

ArticleYear
Repeated oral sucrose dosing after the second wind is unnecessary in patients with McArdle disease: Results from a randomized, placebo-controlled, double-blind, cross-over study.
    Journal of inherited metabolic disease, 2023, Volume: 46, Issue:6

    Topics: Blood Glucose; Cross-Over Studies; Double-Blind Method; Fatty Acids; Glucose; Glycogen Storage Disea

2023
Lactate and Energy Metabolism During Exercise in Patients With Blocked Glycogenolysis (McArdle Disease).
    The Journal of clinical endocrinology and metabolism, 2015, Volume: 100, Issue:8

    Topics: Adult; Energy Metabolism; Exercise; Exercise Test; Female; Glycogen Storage Disease Type V; Glycogen

2015
A nonischemic forearm exercise test for McArdle disease.
    Annals of neurology, 2002, Volume: 52, Issue:2

    Topics: Adult; Ammonia; Exercise; Exercise Test; Female; Forearm; Glycogen Storage Disease Type V; Hand Stre

2002
Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms.
    Archives of neurology, 2002, Volume: 59, Issue:9

    Topics: Adult; Anaerobic Threshold; Cardiac Output; Exercise; Female; Glucose; Glycogen Phosphorylase, Muscl

2002
No spontaneous second wind in muscle phosphofructokinase deficiency.
    Neurology, 2004, Jan-13, Volume: 62, Issue:1

    Topics: Adolescent; Adult; Ammonia; Child; Exercise Test; Fasting; Female; Glycogen Storage Disease Type V;

2004

Other Studies

35 other studies available for lactic acid and Glycogen Storage Disease Type V

ArticleYear
Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
    Journal of inherited metabolic disease, 2018, Volume: 41, Issue:6

    Topics: Adult; Aged; Aged, 80 and over; Exercise Test; Family; Female; Genetic Testing; Glycogen Phosphoryla

2018
Investigating sodium valproate as a treatment for McArdle disease in sheep.
    Neuromuscular disorders : NMD, 2015, Volume: 25, Issue:2

    Topics: Animals; Aspartate Aminotransferases; Calcium; Creatine Kinase; Disease Models, Animal; Drug Adminis

2015
Normal activities of AMP-deaminase and adenylate kinase in patients with McArdle disease.
    Neurological research, 2016, Volume: 38, Issue:12

    Topics: Adenylate Kinase; Adolescent; Adult; AMP Deaminase; Female; Forearm; Glycogen Storage Disease Type V

2016
Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.
    Brain : a journal of neurology, 2009, Volume: 132, Issue:Pt 6

    Topics: Adult; Cardiac Output; Exercise Test; Female; Forearm; Glycogen Phosphorylase, Muscle Form; Glycogen

2009
[The lactate-ischemia test: efficient for diagnosis of myopathy?].
    Deutsche medizinische Wochenschrift (1946), 2002, Sep-20, Volume: 127, Issue:38

    Topics: Adult; Ammonia; Diagnosis, Differential; Female; Glycogen Storage Disease Type V; Humans; Ischemia;

2002
Abnormal blood lactate accumulation after exercise in patients with multiple mitochondrial DNA deletions and minor muscular symptoms.
    Clinical physiology and functional imaging, 2004, Volume: 24, Issue:2

    Topics: Adult; Case-Control Studies; DNA, Mitochondrial; Exercise; Female; Gene Deletion; Glycogen Storage D

2004
Gas exchange responses to constant work-rate exercise in patients with glycogenosis type V and VII.
    American journal of respiratory and critical care medicine, 2004, Jun-01, Volume: 169, Issue:11

    Topics: Acidosis, Lactic; Adult; Case-Control Studies; Epinephrine; Exercise; Exercise Test; Exercise Tolera

2004
McArdle's disease diagnosed following statin-induced myositis.
    Annals of clinical biochemistry, 2004, Volume: 41, Issue:Pt 4

    Topics: Aged; Ammonia; Anticholesteremic Agents; Creatine Kinase; Glycogen Storage Disease Type V; Humans; L

2004
Lactic acid accumulation is an advantage/disadvantage during muscle activity.
    Journal of applied physiology (Bethesda, Md. : 1985), 2006, Volume: 100, Issue:6

    Topics: Animals; Energy Metabolism; Glycogen; Glycogen Storage Disease Type V; Humans; Lactates; Lactic Acid

2006
Double trouble (McArdle's disease and myasthenia gravis): how can exercise help?
    Muscle & nerve, 2007, Volume: 35, Issue:1

    Topics: Adult; Cell Enlargement; Creatine Kinase; Energy Metabolism; Exercise; Exercise Therapy; Exercise To

2007
The role of lactate in the exercise-induced human growth hormone response: evidence from McArdle disease.
    British journal of sports medicine, 2009, Volume: 43, Issue:7

    Topics: Adolescent; Adult; Exercise; Exercise Test; Female; Glycogen Storage Disease Type V; Human Growth Ho

2009
One-year follow-up in a child with McArdle disease: exercise is medicine.
    Pediatric neurology, 2008, Volume: 38, Issue:2

    Topics: Blood Glucose; Child; Creatine Kinase; Exercise; Exercise Therapy; Exercise Tolerance; Follow-Up Stu

2008
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?
    Neurology, 2008, May-13, Volume: 70, Issue:20

    Topics: Chromosomes, Human, X; Exercise Test; Glycogen; Glycogen Storage Disease Type V; Glycogen Storage Di

2008
A comparative study on glucagon effect between McArdle disease and Tarui disease.
    Muscle & nerve, 1984, Volume: 7, Issue:7

    Topics: Adult; Female; Glucagon; Glucose; Glycogen Storage Disease; Glycogen Storage Disease Type V; Humans;

1984
Increased ammonia production during forearm ischemic work test in McArdle's disease.
    Klinische Wochenschrift, 1981, Dec-01, Volume: 59, Issue:23

    Topics: Ammonia; Forearm; Glycogen; Glycogen Storage Disease; Glycogen Storage Disease Type V; Humans; Ische

1981
Exercise hyperventilation in patients with McArdle's disease.
    Journal of applied physiology: respiratory, environmental and exercise physiology, 1982, Volume: 52, Issue:4

    Topics: Adult; Female; Glycogen Storage Disease; Glycogen Storage Disease Type V; Humans; Hyperventilation;

1982
Tricarboxylic acid cycle intermediates during incremental exercise in healthy subjects and in patients with McArdle's disease.
    Clinical science (London, England : 1979), 1995, Volume: 88, Issue:6

    Topics: Adult; Alanine; Citrates; Citric Acid Cycle; Exercise; Female; Fumarates; Glutamic Acid; Glycogen St

1995
McArdle's disease with non-insulin-dependent diabetes mellitus: the beneficial effects of hyperglycemia and hyperinsulinemia for exercise intolerance.
    Internal medicine (Tokyo, Japan), 1996, Volume: 35, Issue:5

    Topics: Biopsy; Blood Glucose; Cerebral Infarction; Creatine Kinase; Diabetes Mellitus, Type 2; Eating; Exer

1996
Angina in McArdle's disease.
    Heart (British Cardiac Society), 1996, Volume: 76, Issue:4

    Topics: Aged; Angina Pectoris; Cardiac Pacing, Artificial; Electrophoresis, Polyacrylamide Gel; Gene Express

1996
Sympathetic activation in exercise is not dependent on muscle acidosis. Direct evidence from studies in metabolic myopathies.
    The Journal of clinical investigation, 1998, Apr-15, Volume: 101, Issue:8

    Topics: Acidosis; Adult; Case-Control Studies; Exercise; Female; Glycogen Storage Disease Type V; Humans; Hy

1998
Blood ammonia and ventilation at maximal exercise.
    Archives of physiology and biochemistry, 1998, Volume: 106, Issue:4

    Topics: Adult; Ammonia; Exercise; Female; Glycogen Storage Disease Type V; Glycolysis; Humans; Lactic Acid;

1998
Ischemic exercise testing in suspected McArdle disease.
    Clinical chemistry, 2000, Volume: 46, Issue:8 Pt 1

    Topics: Blood Pressure; Blood Specimen Collection; Exercise Test; Forearm; Glycogen Storage Disease Type V;

2000
ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and McArdle's disease.
    Neuromuscular disorders : NMD, 2001, Volume: 11, Issue:4

    Topics: Adenosine Triphosphate; Adult; Aged; DNA, Mitochondrial; Electron Transport; Enzymes; Exercise; Exer

2001
The exercise metaboreflex is maintained in the absence of muscle acidosis: insights from muscle microdialysis in humans with McArdle's disease.
    The Journal of physiology, 2001, Dec-01, Volume: 537, Issue:Pt 2

    Topics: Acidosis; Adult; Ammonia; Arm; Cardiovascular System; Exercise; Female; Glycogen Storage Disease Typ

2001
A forearm exercise screening test for mitochondrial myopathy.
    Neurology, 2002, May-28, Volume: 58, Issue:10

    Topics: Adult; Aged; Analysis of Variance; Exercise Test; Female; Forearm; Glycogen Storage Disease Type V;

2002
Role of 5'AMP-activated protein kinase in glycogen synthase activity and glucose utilization: insights from patients with McArdle's disease.
    The Journal of physiology, 2002, Jun-15, Volume: 541, Issue:Pt 3

    Topics: Acetyl-CoA Carboxylase; Adult; AMP-Activated Protein Kinases; Blood Glucose; Exercise; Female; Gluco

2002
Exercise intolerance in patients with McArdle's disease or mitochondrial myopathies.
    The European journal of medicine, 1992, Volume: 1, Issue:8

    Topics: Adult; Alanine; Ammonia; Energy Metabolism; Exercise Test; Exercise Tolerance; Female; Glycogen Stor

1992
Effect of deficient muscular glycogenolysis on extramuscular fuel production in exercise.
    Journal of applied physiology (Bethesda, Md. : 1985), 1992, Volume: 72, Issue:5

    Topics: Adult; Energy Metabolism; Exercise; Glycogen; Glycogen Storage Disease Type V; Hemodynamics; Hormone

1992
McArdle's disease: successful symptomatic therapy by high dose oral administration of ribose.
    Klinische Wochenschrift, 1991, Jan-22, Volume: 69, Issue:2

    Topics: Administration, Oral; Adult; Ammonia; Dose-Response Relationship, Drug; Glycogen Storage Disease Typ

1991
Exercise and recovery ventilatory and VO2 responses of patients with McArdle's disease.
    Journal of applied physiology (Bethesda, Md. : 1985), 1990, Volume: 68, Issue:4

    Topics: Adult; Aged; Blood; Exercise; Female; Glycogen Storage Disease Type V; Heart Rate; Humans; Hydrogen-

1990
McArdle disease in a Druze family.
    Israel journal of medical sciences, 1989, Volume: 25, Issue:2

    Topics: Adult; Aged; Biopsy; Child, Preschool; Consanguinity; Exercise; Female; Glycogen; Glycogen Storage D

1989
The second wind phenomenon in McArdle's disease.
    Brain : a journal of neurology, 1986, Volume: 109 ( Pt 6)

    Topics: Adaptation, Physiological; Adult; Ammonia; Blood Glucose; Cardiac Output; Electromyography; Fatigue;

1986
Early onset myophosphorylase deficiency (Mc Ardle's disease) with absence of myophosphorylase protein on SDS electrophoresis. The role of the ischemic forearm test.
    Clinical neurology and neurosurgery, 1985, Volume: 87, Issue:2

    Topics: Adult; Biopsy; Electromyography; Electrophoresis, Polyacrylamide Gel; Exercise Test; Female; Forearm

1985
Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII.
    The Journal of clinical investigation, 1985, Volume: 76, Issue:2

    Topics: Adult; Ammonia; Female; Glycogen Storage Disease; Glycogen Storage Disease Type V; Glycogen Storage

1985
Type V glycogen storage disease.
    Archives of disease in childhood, 1985, Volume: 60, Issue:12

    Topics: Child; Creatine Kinase; Female; Glycogen Storage Disease; Glycogen Storage Disease Type V; Humans; L

1985