Per ulteriori informazioni selezionare i riferimenti di interesse.
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria
HUMAN MOLECULAR GENETICS
Molecular pathophysiology of tubular transport disorders
PEDIATRIC NEPHROLOGY
Function and structure of heterodimeric amino acid transporters
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
Heteromeric amino acid transporters: biochemistry, genetics, and physiology
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
Plasma membrane transport of thyroid hormones and its role in thyroid hormone metabolism and bioavailability
ENDOCRINE REVIEWS
Placental transport and metabolism of amino acids
PLACENTA
Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system x(c)(-)
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
Osteoporosis in children and adolescent girls: Case report of idiopathic juvenile osteoporosis and review of the literature
OBSTETRICAL & GYNECOLOGICAL SURVEY
Recent molecular advances in mammalian glutamine transport
JOURNAL OF NUTRITION
System y(+)L-like activities account for high and low amino-acid transportphenotypes in chicken erythrocytes
JOURNAL OF MEMBRANE BIOLOGY
Overexpression of LAT1/CD98 light chain is sufficient to increase system L-amino acid transport activity in mouse hepatocytes but not fibroblasts
JOURNAL OF BIOLOGICAL CHEMISTRY
Abnormalities in L-arginine transport and nitric oxide biosynthesis in chronic renal and heart failure
CARDIOVASCULAR RESEARCH
Heteromeric amino acid transporters explain inherited aminoacidurias
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families
HUMAN MUTATION
The molecular basis of cystinuria: An update
EXPERIMENTAL NEPHROLOGY
The family of heteromultimeric amino acid transporters reveals aminoaciduria genes
NEPHROLOGY DIALYSIS TRANSPLANTATION
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
Role of plasma membrane transporters in muscle metabolism
BIOCHEMICAL JOURNAL
Glycoprotein-associated amino acid exchangers: broadening the range of transport specificity
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
The molecular and genetic base of congenital transport defects
GUT
Amino acid transport of y(+)L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family
EMBO JOURNAL
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: A case report
PRENATAL DIAGNOSIS
New glycoprotein-associated amino acid transporters
JOURNAL OF MEMBRANE BIOLOGY
B and T cell immunity in patients with lysinuric protein intolerance
CLINICAL AND EXPERIMENTAL IMMUNOLOGY
Genetic homogeneity of lysinuric protein intolerance
EUROPEAN JOURNAL OF HUMAN GENETICS
LYSINURIC PROTEIN INTOLERANCE AND SYSTEMIC LUPUS-ERYTHEMATOSUS
European journal of pediatrics
DIAGNOSTIC APPLICATIONS OF CHROMATOGRAPHY AND CAPILLARY ELECTROPHORESIS
Journal of chromatography B. Biomedical sciences and applications
FOCAL GLYCOGENOSIS OF THE LIVER IN DISORDERS OF UREAGENESIS - ITS OCCURRENCE AND DIAGNOSTIC-SIGNIFICANCE
Hepatology
BONE-MARROW HEMOPHAGOCYTOSIS AND IMMUNOLOGICAL ABNORMALITIES IN A PATIENT WITH LYSINURIC PROTEIN INTOLERANCE
Acta haematologica
LYSINURIC PROTEIN INTOLERANCE WITH CHARAC TERISTIC BONE-MARROW ABNORMALITIES
Archives de pediatrie
A NOVEL 2-NUCLEOTIDE DELETION IN THE ORNITHINE TRANSCARBAMYLASE GENE CAUSING FATAL HYPERAMMONIA IN EARLY-PREGNANCY
Hepatology
NECROPSY FINDINGS IN LYSINURIC PROTEIN INTOLERANCE
Journal of Clinical Pathology
LYSINURIC PROTEIN INTOLERANCE IN PREGNANCY - CASE-REPORT WITH SUCCESSFUL OUTCOME
Archives of gynecology and obstetrics
ORNITHINE TRANSCARBAMYLASE DEFICIENCY IN FEMALES - AN OFTEN OVERLOOKED CAUSE OF TREATABLE ENCEPHALOPATHY
Journal of child neurology
IMMUNOLOGICAL ABNORMALITY IN PATIENTS WITH LYSINURIC PROTEIN INTOLERANCE
Journal of the neurological sciences
INHERITED AND ACQUIRED SYNDROMES OF HYPERAMMONEMIA AND ENCEPHALOPATHYIN CHILDREN
Seminars in liver disease
PULMONARY ALVEOLAR PROTEINOSIS AND GLOMERULONEPHRITIS IN LYSINURIC PROTEIN INTOLERANCE - CASE-REPORTS AND AUTOPSY FINDINGS OF 4 PEDIATRIC-PATIENTS
Human pathology
ROLE OF HEMATOLOGICAL, PULMONARY AND RENAL COMPLICATIONS IN THE LONG-TERM PROGNOSIS OF PATIENTS WITH LYSINURIC PROTEIN INTOLERANCE
European journal of pediatrics