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Pediatrics, ISSN 0031-4005, 02/2012, Volume 129, Issue 2, pp. e535 - e539
Mevalonic aciduria (MA) represents the severest form of mevalonate kinase deficiency due to recessively inherited, loss-of-function MVK mutations. MA is an... 
HIDS | Anti-IL-1 therapy | Autoinflammatory diseases | Metabolic diseases | Mevalonic aciduria | Mevalonate kinase deficiency | Hyper-IgD and periodic fever | anti-IL-1 therapy | MVK | CHOLESTEROL | metabolic diseases | BONE-MARROW-TRANSPLANTATION | autoinflammatory diseases | PERIODIC FEVER SYNDROME | ANAKINRA | mevalonate kinase deficiency | hyper-IgD and periodic fever | ISOPRENE BIOSYNTHESIS | HYPERIMMUNOGLOBULINEMIA-D SYNDROME | HYPER-IGD | ACIDURIA | PEDIATRICS | MUTATIONS | Fever of Unknown Origin - genetics | Genes, Recessive - genetics | Humans | Infant | Male | Mevalonate Kinase Deficiency - genetics | Myoclonic Cerebellar Dyssynergia - diagnosis | Genetic Variation | Psychomotor Disorders - genetics | DNA Mutational Analysis | Failure to Thrive - diagnosis | Child | Fever of Unknown Origin - diagnosis | Diagnosis, Differential | Failure to Thrive - genetics | Myoclonic Cerebellar Dyssynergia - genetics | Genotype | Mevalonate Kinase Deficiency - drug therapy | Mevalonate Kinase Deficiency - diagnosis | Cerebellum - pathology | Mevalonic Acid - urine | Magnetic Resonance Imaging | Phenotype | Cerebellar Ataxia - genetics | Interleukin 1 Receptor Antagonist Protein - therapeutic use | Psychomotor Disorders - diagnosis | Alleles | Brain - pathology | Cerebellar Ataxia - diagnosis | Mevalonate | Gene mutations | Causes of | Genetic aspects | Research | Health aspects | Pediatrics | Genotype & phenotype | Genetics | Mutation | Medical treatment | Metabolic disorders
Journal Article
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 5/2015, Volume 38, Issue 3, pp. 581 - 581
Journal Article
Journal of Inherited Metabolic Disease, ISSN 1573-2665, 12/2010, Volume 33, Issue S3, pp. 315 - 319
We present a 32-year-old patient who, from age 7 months, developed photophobia, left-eye ptosis and progressive muscular weakness. At age 7 years, she showed... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Muscle Strength - genetics | Blepharoptosis - genetics | Humans | Acidosis, Lactic - drug therapy | Mutation, Missense | Muscle Weakness - genetics | Thioctic Acid - deficiency | DNA Mutational Analysis | Base Sequence | Pyruvate Dehydrogenase Complex Deficiency Disease - genetics | Pyruvate Dehydrogenase Complex Deficiency Disease - enzymology | Thioctic Acid - genetics | Amino Acid Sequence | Genetic Predisposition to Disease | Maple Syrup Urine Disease - genetics | Photophobia - genetics | Photophobia - diagnosis | Heredity | Biomarkers - blood | Blepharoptosis - diagnosis | Photophobia - enzymology | Phenotype | Pyruvate Dehydrogenase Complex Deficiency Disease - diagnosis | Biomarkers - urine | Lactic Acid - blood | Muscle Weakness - diagnosis | Acidosis, Lactic - genetics | Molecular Sequence Data | Thiamine - therapeutic use | Maple Syrup Urine Disease - diagnosis | Acidosis, Lactic - enzymology | Muscle Weakness - enzymology | Blepharoptosis - enzymology | Adult | Female | Thioctic Acid - chemistry | Maple Syrup Urine Disease - enzymology | Protein Structure, Tertiary | Maple Syrup Urine Disease - drug therapy | Lactic Acid - urine | Cells, Cultured | Maple Syrup Urine Disease - physiopathology | Treatment Outcome | Acidosis, Lactic - physiopathology | Spain | Homozygote | Pedigree | Muscle Weakness - drug therapy | Heterozygote | Thioctic Acid - analogs & derivatives | Muscle Weakness - physiopathology | Dietary Supplements | Acidosis, Lactic - diagnosis
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2016, Volume 11, Issue 5, p. e0156359
Journal Article
Human mutation, ISSN 1059-7794, 2019, Volume 40, Issue 10, pp. 1700 - 1712
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2015, Volume 38, Issue 3, pp. 391 - 403
Journal Article
Intensive Care Medicine, ISSN 0342-4642, 9/2018, Volume 44, Issue 9, pp. 1470 - 1482
Journal Article