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Toplam kayıt 21, listelenen: 11-20
A Phenocopy of Caii Deficiency: A Novel Genetic Explanation for Inherited Infantile Osteopetrosis with Distal Renal Tubular Acidosis
(British Med Journal Publ Group, 2003)
The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel of this autosomal recessive syndrome comprise oncreased ...
The Significance Of Antineutrophil Cytoplasmic Antibody In Microscopic Polyangitis And Classic Polyarteritis Nodosa
(British Med Journal Publ Group, 2001)
Aims-To describe the distribution and features of classic polyarteritis nodosa (PAN) and microscopic polyarteritis (MPA) and the importance of antineutrophil cytoplasmic antibody (ANCA) in childhood PAN. Methods-Classic ...
Patients with Mutations in Nphs2 (Podocin) Do not Respond To Standard Steroid Treatment of Nephrotic Syndrome
(Amer Soc Nephrology, 2004)
Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to standard steroid therapy. It remains one of the ...
Novel Atp6V1B1 And Atp6V0A4 Mutations In Autosomal Recessive Distal Renal Tubular Acidosis With New Evidence For Hearing Loss
(Bmj Publishing Group, 2002)
Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokolaemia, decreased urinary calcium solubility, and impaired bone physiology and ...
Mutation Analysis Of The Entire Pkd1 Gene: Genetic And Diagnostic Implications
(Cell Press, 2001)
Mutation screening of the major autosomal dominant polycystic kidney disease (ADPKD) locus, PKD1, has proved difficult because of the large transcript and complex reiterated gene region. We have developed methods, employing ...
Prevalence of Wt1 Mutations in A Large Cohort of Patients with Steroid-Resistant and Steroid-Sensitive Nephrotic Syndrome
(Elsevier Science Inc, 2004)
Background. Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Steroid-resistant nephrotic syndrome (SRNS) is defined by primary resistance to standard steroid ...
C Reactive Protein: Protecting from Lupus in Familial Mediterranean Fever
(B M J Publishing Group, 2005)
Mefv Mutations In Systemic Jia
(BioMed Central, 2008)
Background: Systemic form of juvenile idiopathic arthritis (JIA) is regarded as an autoinflammatory disease. Certain genetic polymorphisms in genes coding inflammatory proteins have been associated with the disease. On the ...