Found: 11
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Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 6, p. 1400, doi. 10.3390/ijms20061400
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- Publication type:
- Article
Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 11, p. 1141, doi. 10.3390/metabo12111141
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- Publication type:
- Article
Sialylation and Muscle Performance: Sialic Acid Is a Marker of Muscle Ageing.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0080520
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- Publication type:
- Article
Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.
- Published in:
- 2012
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- Publication type:
- Report
Pulmonary Diseases in Older Patients: Understanding and Addressing the Challenges.
- Published in:
- Geriatrics (2308-3417), 2024, v. 9, n. 2, p. 34, doi. 10.3390/geriatrics9020034
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- Publication type:
- Article
Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset.
- Published in:
- 2009
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- Publication type:
- Letter
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 533, doi. 10.3233/JND-220822
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- Publication type:
- Article
Prevalence of Headache in Patients With Mitochondrial Disease: A Cross-Sectional Study.
- Published in:
- Headache: The Journal of Head & Face Pain, 2018, v. 58, n. 1, p. 45, doi. 10.1111/head.13219
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- Publication type:
- Article
McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients.
- Published in:
- Biomedicines, 2020, v. 8, n. 2, p. 33, doi. 10.3390/biomedicines8020033
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- Publication type:
- Article
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
- Published in:
- Molecules, 2020, v. 25, n. 8, p. 1784, doi. 10.3390/molecules25081784
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- Publication type:
- Article
Frequencies of myohistological mitochondrial changes in patients with mitochondrial DNA deletions and the common m.3243 A> G point mutation.
- Published in:
- Neuropathology, 2015, v. 35, n. 2, p. 130, doi. 10.1111/neup.12173
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- Publication type:
- Article