Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 157, Issue 1, 2011, Pages 54-62

  Sebastio, Gianfranco ^a   Sperandeo, Maria P ^a   Andria, Generoso ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Arginine; Hemophagocytic lymphohistiocytosis; Lysinuric protein intolerance; Nitric oxide; Pulmonary alveolar proteinosis; Renal failure; SLC7A7

Indexed keywords

ALENDRONIC ACID; AMINO ACID; AMINOTRANSFERASE; ARGININE; BENZOIC ACID; CALCIUM; CARNITINE; CITRULLINE; COMPLEMENTARY DNA; CORTICOSTEROID; CREATININE; CYCLOSPORIN A; CYSTATIN C; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; IMMUNOGLOBULIN; IRON; LACTATE DEHYDROGENASE; LYSINE; METHIONINE; NITROGEN; NITROGEN SCAVENGING COMPOUND; ORNITHINE; TRACE ELEMENT; UNCLASSIFIED DRUG; VITAMIN D; ZINC;

5' UNTRANSLATED REGION; AMINO ACID TRANSPORT; AMINO ACID URINE LEVEL; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ARTIFICIAL MILK; BIOCHEMISTRY; BLOOD LEVEL; BONE MARROW EXAMINATION; BREAST FEEDING; CHICKENPOX; CITRULLINE SUPPLEMENTATION; CLINICAL ASSESSMENT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CREATININE BLOOD LEVEL; CYTOPENIA; DEATH; DIAGNOSTIC ERROR; DIALYSIS; EPSTEIN BARR VIRUS INFECTION; ERYTHROBLASTOPHAGOCYTOSIS; ERYTHROPHAGOCYTOSIS; ETHNICITY; EXON; FAILURE TO THRIVE; FANCONI RENOTUBULAR SYNDROME; FEEDING DISORDER; FEVER; FINLAND; FOUNDER EFFECT; GENE; GENE MUTATION; GENETIC DISORDER; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HEART LUNG TRANSPLANTATION; HEMATOLOGIC DISEASE; HEMOPHAGOCYTIC LYMPHOHISTIOCYSTOSIS; HEPATOSPLENOMEGALY; HOMOZYGOSITY; HUMAN; HYPERAMMONEMIA; HYPERAMMONEMIC COMA; HYPERFERRITINEMIA; HYPERLIPIDEMIA; HYPERTENSION; HYPERTRIGLYCERIDEMIA; HYPOALBUMINEMIA; HYPOFIBRINOGENEMIA; IMMUNE RESPONSE; INCIDENCE; INTRON; IRON DEFICIENCY ANEMIA; ITALY; KIDNEY DISEASE; KIDNEY FAILURE; LEUKOPENIA; LUNG ALVEOLUS PROTEINOSIS; LUNG DISEASE; LUNG LAVAGE; LYMPHADENOPATHY; LYSINURIC PROTEIN INTOLERANCE; MEMBRANOUS GLOMERULONEPHRITIS; MICROSCOPIC HEMATURIA; MOLECULAR GENETICS; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; OSTEOPOROSIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN RESTRICTION; PROTEINURIA; RESPIRATORY FAILURE; SLC7A7 GENE; SUPPLEMENTATION; SYSTEMIC LUPUS ERYTHEMATOSUS; THORAX RADIOGRAPHY; THROMBOCYTOPENIA; TREATMENT INDICATION; URINARY EXCRETION; VASCULITIS; VITAMIN SUPPLEMENTATION; VOMITING; WEANING;

AMINO ACID TRANSPORT SYSTEMS; AMINO ACID TRANSPORT SYSTEMS, BASIC; ANTIGENS, CD98 LIGHT CHAINS; EPITHELIAL CELLS; FINLAND; GENETIC ASSOCIATION STUDIES; HUMANS; INTESTINES; KIDNEY; LARGE NEUTRAL AMINO ACID-TRANSPORTER 1; LYSINE; MUTATION; PULMONARY ALVEOLAR PROTEINOSIS; RENAL AMINOACIDURIAS;

EID: 79951700485     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30287     Document Type: Article

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