Published in Turk J Pediatr on February 15, 1980
Heterozygous carriers of classical phenylketonuria in a sample of the Turkish population: detection by a spectrofluorimetric method. J Inherit Metab Dis (1991) 1.42
Microcephaly in a hyperphenylalaninemic infant leading to the diagnosis of maternal hyperphenylalaninemia. Eur J Pediatr (1996) 1.41
DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population. Hum Genet (1989) 1.12
A case of Pearson syndrome associated with multiple renal cysts. Pediatr Nephrol (1996) 1.10
Hyperlysinemia without clinical findings. Acta Paediatr Scand (1981) 1.03
Mutation analysis in Turkish phenylketonuria patients. J Med Genet (1993) 1.02
Delayed-onset profound biotinidase deficiency. J Pediatr (1998) 0.96
Systemic oxalosis: pathognomonic renal and specific extrarenal findings on US and CT. Pediatr Radiol (1995) 0.96
Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia. J Clin Invest (1990) 0.95
The effect of zinc-supplemented bread consumption on school children with asymptomatic zinc deficiency. J Pediatr Gastroenterol Nutr (1998) 0.89
von Willebrand factor antigen compared with other factors in vasculitic syndromes. Arch Dis Child (1994) 0.88
Plasma lipids and lipoproteins in juvenile chronic arthritis. Clin Rheumatol (1996) 0.87
Plasma amino acid response in young men given diets devoid of single essential amino acids. J Nutr (1972) 0.87
Type I hereditary tyrosinaemia: presentation of 11 cases. J Inherit Metab Dis (1991) 0.86
Sacroiliitis in familial Mediterranean fever: an unusual presentation in childhood. Turk J Pediatr (2000) 0.86
Novel mutations cause biotinidase deficiency in Turkish children. J Inherit Metab Dis (2000) 0.86
Screening for congenital hypothyroidism in Turkey. Eur J Pediatr (1995) 0.85
Tay-Sachs disease: a case report. Turk J Pediatr (1995) 0.85
Hyperimmunoglobulinaemia D and periodic fever mimicking familial Mediterranean fever in the Mediterranean. Postgrad Med J (1991) 0.85
The gingival crevicular fluid interleukin-1 beta and tumour necrosis factor-alpha levels in patients with rapidly progressive periodontitis. Aust Dent J (1995) 0.85
The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor. J Inherit Metab Dis (1992) 0.84
A family with Jeune syndrome. Pediatr Nephrol (2001) 0.84
Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases. Turk J Pediatr (1995) 0.84
Study of 12 mutations in Turkish cystic fibrosis patients. Hum Hered (1995) 0.84
A case of Hartnup disorder with hypoalbuminemia and edema. Turk J Pediatr (1979) 0.83
Isovaleric acidemia. Clinical presentation of 6 cases. Turk J Pediatr (1998) 0.83
Plasma amino acid response curve and amino acid requirements in young men: valine and lysine. J Nutr (1972) 0.83
Mutational analysis of Turkish galactosaemia patients. J Inherit Metab Dis (1995) 0.82
Efficacy of oxybutynin, pseudoephedrine and indomethacin in the treatment of primary nocturnal enuresis. Turk J Pediatr (1996) 0.82
Serum-25-hydroxycholecalciferol levels in children and adolescents. Turk J Pediatr (1989) 0.82
Lethal hyperammonaemic coma due to ornithine transcarbamylase deficiency presenting as brain stem encephalitis in a previously asymptomatic ten-year-old boy. J Inherit Metab Dis (1987) 0.82
Nutritional assessment of children on haemodialysis: value of IGF-I, TNF-alpha and IL-1beta. Nephrol Dial Transplant (1998) 0.82
Familial membranoproliferative glomerulonephritis. Nephrol Dial Transplant (1995) 0.82
Evaluation of the hypercoagulable state by measuring protein C and antithrombin III levels in nephrotic syndrome and in familial Mediterranean fever-related amyloidosis. Turk J Pediatr (1992) 0.82
Maple syrup urine disease: mutation analysis in Turkish patients. J Inherit Metab Dis (2002) 0.81
T-cell subsets, interleukin-2 receptor expression and production of interleukin-2 in minimal change nephrotic syndrome. Pediatr Nephrol (1994) 0.81
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). Hum Genet (2000) 0.81
Amyloidosis in children with familial Mediterranean fever. Turk J Pediatr (1991) 0.79
Aluminum content of infant formulas used in Turkey. Biol Trace Elem Res (1995) 0.79
Leucocyte ascorbic acid concentration and plasma ascorbic acid levels in children with various infections. Mater Med Pol (1993) 0.79
Hepatitis as the presenting symptom of childhood systemic lupus erythematosus. Turk J Pediatr (2000) 0.79
Pulmonary hemosiderosis with juvenile rheumatoid arthritis: a case report. Turk J Pediatr (2000) 0.79
Type I glycogenosis with renal tubular dysfunction (presentation of two cases). Turk J Pediatr (1994) 0.79
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations. Hum Hered (2000) 0.78
Plasma atrial natriuretic peptide and endothelin levels in acute poststreptococcal glomerulonephritis. Pediatr Nephrol (1992) 0.78
Protein value of Colombian opaque-2 corn for young adult men. J Nutr (1971) 0.78
Fifteen years' experience with 212 hyperammonaemic cases at a metabolic unit. J Inherit Metab Dis (1991) 0.78
Neurophysiological studies of patients with classical phenylketonuria: evaluation of results of IQ scores, EEG and evoked potentials. Turk J Pediatr (1993) 0.77
Citrullinemia. Clinical experience with 23 cases. Turk J Pediatr (1998) 0.77
Effect of carnitine supplementation on cardiac function in hemodialyzed children. Acta Paediatr Jpn (1998) 0.77
Antineutrophil cytoplasmic antibodies in childhood systemic lupus erythematosus. Clin Rheumatol (1998) 0.77
Carotid intima media thickness and left ventricular changes in children with end-stage renal disease. Transplant Proc (2002) 0.76
Mutation analysis in Turkish patients with hereditary fructose intolerance. J Inherit Metab Dis (2001) 0.76
Association between mutations and the variable number tandem repeat alleles in a sample of Turkish phenylketonuria patients. J Inherit Metab Dis (1994) 0.76
The role of cathepsin D in pathogenesis of acute post-streptococcal glomerulonephritis. Acta Paediatr Scand (1976) 0.76
Acute renal failure due to acute pyelonephritis. Int Urol Nephrol (1995) 0.76
Infantile spasms as the initial symptom of biotinidase deficiency. J Pediatr (1994) 0.76
Biotinidase deficiency with neurological features resembling multiple sclerosis. J Inherit Metab Dis (1997) 0.75
Plasma thrombomodulin concentrations in uraemic children. Nephrol Dial Transplant (1996) 0.75
Tight heparin regimen for haemodialysis in children. Int Urol Nephrol (1993) 0.75
Hypophosphatemic vitamin-D resistant rickets associated with epidermal nevus syndrome. A case report. Turk J Pediatr (1997) 0.75
Valproate-induced lethal hyperammonaemic coma in a carrier of ornithine carbamoyltransferase deficiency. J Inherit Metab Dis (1991) 0.75
Dilated cardiomyopathy in juvenile chronic arthritis. Scand J Rheumatol (1994) 0.75
Nonketotic hyperglycinemia in a newborn infant. Turk J Pediatr (1995) 0.75
Contrast material--induced acute renal failure in a diabetic patient. Turk J Pediatr (1993) 0.75
Acute leucemia in a patient with juvenile rheumatoid arthritis displaying cystic osseous lesions. Turk J Pediatr (1971) 0.75
Diagnostic value of renal studies with radioisotopes in the pediatric age group. Turk J Pediatr (1974) 0.75
Effects of secondary hyperparathyroidism on cardiac function in pediatric patients on hemodialysis. Turk J Pediatr (1996) 0.75
Partial C4 deficiency in two children with systemic lupus erythematosus. Turk J Pediatr (1995) 0.75
Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia. Turk J Pediatr (2000) 0.75
Acute glomerulonephritis associated with acute pneumococcal meningitis. A case report. Int Urol Nephrol (1993) 0.75
Investigation of serum vitamin A levels of children who had a history of recurrent diarrhoea and acute respiratory infections in Ankara. J Trop Pediatr (1990) 0.75
Cerebrospinal fluid amino acid levels in newborn infants with intracranial hemorrhage. Acta Paediatr Jpn (1995) 0.75
Peritoneal hemosiderosis in pediatric patients with nephrogenic ascites. Nephron (1992) 0.75
Membranoproliferative glomerulonephritis in sibs. Turk J Pediatr (1993) 0.75
Urinary tract tuberculosis in a child with Henoch-Schönlein purpura: a case report. Turk J Pediatr (1990) 0.75
Gastrointestinal symptoms in polyarteritis nodosa. A case report. Turk J Pediatr (1977) 0.75
Urinary cyclic AMP in vitamin D deficiency rickets. Turk J Pediatr (1984) 0.75
Peculiar odor of traditional food and maple syrup urine disease. Pediatr Int (1999) 0.75
Plasma exchange in refractory autoimmune anemia in a child with systemic vasculitis associated with homozygote beta thalassemia. Turk J Pediatr (1995) 0.75
[Ctenophthalmus (Ctenophthalmus) stirps n. sp. from Turkey (Siphonaptera, Hystrichopsyllidae)]. Ann Parasitol Hum Comp (1983) 0.75
Acute pancreatitis in a patient with glutaric acidemia type II. Turk J Pediatr (1997) 0.75
Early onset of stone diseases and primary hyperoxaluria. Int Urol Nephrol (1990) 0.75
Complement activation and serum beta-glucuronidase level during hemodialysis. Child Nephrol Urol (1989) 0.75
Familial idiopathic hypercalciuria. Turk J Pediatr (1989) 0.75
Haemodialysis treatment in phenobarbital intoxication in infancy. Int Urol Nephrol (1993) 0.75
Reduced activity of erythrocyte, Na, K-ATPase in hypothyroid children. Turk J Pediatr (1987) 0.75
Protein C and anti-thrombin III levels in nephrotic syndrome and amyloidosis. Pediatr Nephrol (1992) 0.75
Nephrocalcinosis due to vitamin D intoxication. Turk J Pediatr (1990) 0.75
The effect of live measles vaccines on serum vitamin A levels in healthy children. Acta Paediatr Jpn (1998) 0.75
Fatal disseminated herpes simplex virus infection in malnourished infants. Turk J Pediatr (1971) 0.75
Systemic lupus erythematosus with chorea. Turk J Pediatr (1979) 0.75
[1st cases of adiaspiromycosis observed in small mammals in Turkey. 3 new host species]. Bull Soc Pathol Exot Filiales (1985) 0.75
Soft tissue calcification in chronic renal failure in childhood. Turk J Pediatr (1983) 0.75
Effects of renal failure on serum transaminase activity. Turk J Pediatr (1982) 0.75
Molecular basis of mild hyperphenylalaninaemia in Turkey. J Inherit Metab Dis (2000) 0.75