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Low skeletal muscle mass as an early sign in children with fabry disease

• Authors : Zhihong Lu; Guoping Huang; Ling Yu

Subjects: Fabry disease; Children; Skeletal muscle

• Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

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Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells

• Authors : Lacey K. Greer; Katherine G. Meilleur; Brandon K. Harvey

Subjects: Exodosis; Ryanodine receptor isoform-1; Myopathy

• Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)

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Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study

• Authors : Philip J. Hennis; Elaine Murphy; Rick I. Meijer

Subjects: Skeletal muscle; Glycogen storage disease type IIIa; Maximum voluntary contraction

• Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

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Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.

• Authors : Prater, Sean N.¹; Patel, Trusha T.¹; Buckley, Anne F.²

• Source: Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-12. 12p. 2 Color Photographs, 1 Graph.

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Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients.

• Authors : Mueller, Sandro Manuel¹; Gehrig, Saskia Maria¹; Petersen, Jens A.¹

• Source: Orphanet Journal of Rare Diseases. 12/19/2017, Vol. 12, p1-7. 7p.

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Low skeletal muscle mass as an early sign in children with fabry disease.

• Authors : Lu, Zhihong; Huang, Guoping; Yu, Ling

Subjects: MUSCLE mass; BONE density; ANGIOKERATOMA corporis diffusum

• Source: Orphanet Journal of Rare Diseases; 7/21/2023, Vol. 18 Issue 1, p1-9, 9p

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Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.

• Authors : Hennis, Philip J.; Murphy, Elaine; Meijer, Rick I.

Subjects: GLYCOGEN storage disease; AEROBIC capacity; SKELETAL muscle

• Source: Orphanet Journal of Rare Diseases; 1/31/2022, Vol. 17 Issue 1, p1-12, 12p

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Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America

• Authors : Emma Rybalka; Hyung Jun Park; Atchayaram Nalini

Subjects: Adenylosuccinate synthetase 1 myopathy; ADSS1 myopathy; Inborn error of metabolism

• Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-18 (2024)

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Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy.

• Authors : Gehrig, Saskia Maria^1,2,3 (AUTHOR); Mihaylova, Violeta¹ (AUTHOR); Frese, Sebastian¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 7/29/2016, Vol. 11, p1-12. 12p. 3 Charts, 1 Graph.

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Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America

• Authors : Rybalka, Emma; Park, Hyung Jun; Nalini, Atchayaram

Subjects: NEUROMUSCULAR diseases; INBORN errors of metabolism; MYOCARDIUM

• Source: Orphanet Journal of Rare Diseases; 11/26/2024, Vol. 19 Issue 1, p1-18, 18p

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