- ... II Deficiency National Library of Medicine Genetics Home Reference Carnitine palmitoyltransferase II deficiency FOD Family Support Group (Fatty ... Locus-Specific Databases HGMD ClinVar CPT2 1p32 .3 Carnitine ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
- ... on individual basis to maintain plasma free L-carnitine concentration w/in reference range. Lifelong carnitine supplementation is recommended. Impaired ureagenesis ...
- ... an individual basis to maintain plasma free L-carnitine concentration w/in normal age-appropriate reference range. Supplemental carnitine may not be required but ...
- ... on an individual basis to maintain plasma free carnitine concentration w/in normal age-appropriate reference range. Lifelong carnitine supplementation is generally recommended. 8 ...
- ... an individual basis to maintain plasma free L-carnitine concentration w/in normal age-appropriate reference range. 15 Lifelong carnitine supplementation is generally recommended. ...
- ... on individual basis to maintain plasma-free L-carnitine concentration w/in normal age-appropriate reference range. Addressing ↑ energy/ caloric demands Fundoplication, gastrostomy, or ...
- ... Databases HGMD ClinVar SLC22A5 5q31 .1 Organic cation/carnitine transporter 2 SLC22A5 database SLC22A5 SLC22A5 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
- ... Specific Databases HGMD ClinVar SLC25A20 3p21 .31 Mitochondrial carnitine/acylcarnitine carrier protein SLC25A20 database SLC25A20 SLC25A20 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
- ... Locus-Specific Databases HGMD ClinVar CPT1A 11q13 .3 Carnitine O-palmitoyltransferase 1, liver isoform CPT1A database CPT1A CPT1A Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
- ... Nonpharmacologic Treatment Options (Alpha-Lipoic Acid, Acetyl-L-Carnitine, Acupuncture, Physical Therapy and Exercise, Cognitive Behavioral Therapy, Electrical Stimulation, Surgical Decompression) To Improve Symptoms Discussion References Appendix A. List of Acronyms Appendix B. Detailed ...
114 results