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Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/1994, Volume 57, Issue 12, pp. 1465 - 1465
Journal Article
Journal of neurology, neurosurgery, and psychiatry, ISSN 0022-3050, 12/1994, Volume 57, Issue 12, p. 1465
Journal Article
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, ISSN 0022-3050, 12/1994, Volume 57, Issue 12, pp. 1465 - 1465
Journal Article
FRONTIERS IN MICROBIOLOGY, ISSN 1664-302X, 01/2019, Volume 9, p. 3319
Complement is a tightly controlled arm of the innate immune system, facilitating phagocytosis and killing of invading pathogens. Factor H (FH) is the main... 
Candida albicans | COMPLEMENT REGULATOR | SURFACE PROTEIN | complement system | ACQUISITION | MICROBIOLOGY | IDENTIFICATION | EVASION | factor H | PLASMINOGEN | fungal infections | YEAST | FORMS | immune evasion | INHIBITOR | HYPHAL | Usage | Research | Phagocytosis | Membrane proteins
Journal Article
Journal Article
Journal Article
Pediatrics, ISSN 0031-4005, 05/2017, Volume 139, Issue 5, p. e20160170
Amyloidosis cutis dyschromica is a rare form of primary cutaneous amyloidosis without systemic involvement and characterized by asymptomatic, progressive... 
PEDIATRICS | Diagnosis, Differential | Amyloidosis, Familial - diagnosis | Skin Diseases, Genetic - diagnosis | Humans | Hyperpigmentation - etiology | Male | Child | Skin - pathology | Complications and side effects | Amyloidosis | Histology, Pathological | Analysis | Literature reviews | Proteins | Pediatrics | Histopathology | Biopsy | Pigments | Skin | Hyperpigmentation | Patients | Pigmentation
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 580 - 590
Purpose: The nature of phenylalanine hydroxylase (PAH) variants determines residual enzyme activity, which modifies the clinical phenotype in phenylketonuria... 
Locus-specific database | PKU | Tetrahydrobiopterin | Genotype–phenotype prediction | MOLECULAR-GENETICS | DIAGNOSIS | EXPRESSION ANALYSIS | HYPERPHENYLALANINEMIA | Genotype-phenotype prediction | GENETICS & HEREDITY | MUTATIONS | PHENYLALANINE-HYDROXYLASE DEFICIENCY | Genotype & phenotype
Journal Article
PLOS ONE, ISSN 1932-6203, 02/2019, Volume 14, Issue 2, p. e0212458
Background and aims Inborn errors of purine and pyrimidine metabolism are a diverse group of disorders with possible serious or life-threatening symptoms. They... 
ADENYLOSUCCINATE LYASE DEFICIENCY | LABELED INTERNAL STANDARDS | METABOLISM | MULTIDISCIPLINARY SCIENCES | UPDATE | TANDEM MASS-SPECTROMETRY | OROTIC ACIDURIA | HPLC | INBORN-ERRORS | ELECTROSPRAY-IONIZATION | CHILDREN | Urine | Usage | Diagnosis | Research | Biological markers | Assaying apparatus | Kidney stones | Alkaloids | Pyrimidines | Liquid chromatography
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2011, Volume 19, Issue 4, pp. 394 - 399
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2016, Volume 39, Issue 2, pp. 273 - 283
Journal Article