Published in Turk J Pediatr on May 16, 1979
Hartnup disease masked by kwashiorkor. J Health Popul Nutr (2010) 0.75
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
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
Tay-Sachs disease: a case report. Turk J Pediatr (1995) 0.85
Screening for congenital hypothyroidism in Turkey. Eur J Pediatr (1995) 0.85
The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor. J Inherit Metab Dis (1992) 0.84
Hodgkin and Reed-Sternberg cell associated monoclonal antibodies HRS-1 and HRS-2 react with activated cells of lymphoid and monocytoid origin. Anticancer Res (1988) 0.84
Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases. Turk J Pediatr (1995) 0.84
A family with Jeune syndrome. Pediatr Nephrol (2001) 0.84
Study of 12 mutations in Turkish cystic fibrosis patients. Hum Hered (1995) 0.84
Plasma amino acid response curve and amino acid requirements in young men: valine and lysine. J Nutr (1972) 0.83
Isovaleric acidemia. Clinical presentation of 6 cases. Turk J Pediatr (1998) 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
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
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
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
Maple syrup urine disease: mutation analysis in Turkish patients. J Inherit Metab Dis (2002) 0.81
Aluminum content of infant formulas used in Turkey. Biol Trace Elem Res (1995) 0.79
Pulmonary hemosiderosis with juvenile rheumatoid arthritis: a case report. Turk J Pediatr (2000) 0.79
Hepatitis as the presenting symptom of childhood systemic lupus erythematosus. Turk J Pediatr (2000) 0.79
Leucocyte ascorbic acid concentration and plasma ascorbic acid levels in children with various infections. Mater Med Pol (1993) 0.79
Amyloidosis in children with familial Mediterranean fever. Turk J Pediatr (1991) 0.79
Type I glycogenosis with renal tubular dysfunction (presentation of two cases). Turk J Pediatr (1994) 0.79
Plasma atrial natriuretic peptide and endothelin levels in acute poststreptococcal glomerulonephritis. Pediatr Nephrol (1992) 0.78
Fifteen years' experience with 212 hyperammonaemic cases at a metabolic unit. J Inherit Metab Dis (1991) 0.78
Protein value of Colombian opaque-2 corn for young adult men. J Nutr (1971) 0.78
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations. Hum Hered (2000) 0.78
Citrullinemia. Clinical experience with 23 cases. Turk J Pediatr (1998) 0.77
Antineutrophil cytoplasmic antibodies in childhood systemic lupus erythematosus. Clin Rheumatol (1998) 0.77
Neurophysiological studies of patients with classical phenylketonuria: evaluation of results of IQ scores, EEG and evoked potentials. Turk J Pediatr (1993) 0.77
Effect of carnitine supplementation on cardiac function in hemodialyzed children. Acta Paediatr Jpn (1998) 0.77
Carotid intima media thickness and left ventricular changes in children with end-stage renal disease. Transplant Proc (2002) 0.76
The role of cathepsin D in pathogenesis of acute post-streptococcal glomerulonephritis. Acta Paediatr Scand (1976) 0.76
Infantile spasms as the initial symptom of biotinidase deficiency. J Pediatr (1994) 0.76
Acute renal failure due to acute pyelonephritis. Int Urol Nephrol (1995) 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
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
Valproate-induced lethal hyperammonaemic coma in a carrier of ornithine carbamoyltransferase deficiency. J Inherit Metab Dis (1991) 0.75
Hypophosphatemic vitamin-D resistant rickets associated with epidermal nevus syndrome. A case report. Turk J Pediatr (1997) 0.75
Malabsorption, megaloblastic anemia and X-linked immunodeficiency with hyper IgM. Turk J Pediatr (1980) 0.75
Phenylketonuria in Turkey: experience with an enzymatic colorimetric test for measurement of serum phenylalanine. J Inherit Metab Dis (1990) 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
Intracranial calcification in dihydropteridine reductase deficiency. Turk J Pediatr (1992) 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
Plasma and leukocyte zinc and copper levels in patients with protein energy malnutrition. J Trop Pediatr (1988) 0.75
Case of the month. Eur J Pediatr (1996) 0.75
Leprechaunism in two Turkish patients. Turk J Pediatr (1997) 0.75
Atrial natriuretic peptide in childhood nephrotic syndrome. Nephrol Dial Transplant (1996) 0.75
Late cardiac and vascular complications of primary hyperoxaluria in childhood. Pediatr Nephrol (1996) 0.75
Cerebrospinal fluid glutamine level in the differential diagnosis of a "bloody tap" in newborn infants. Brain Dev (1992) 0.75
Urinary beta glucuronidase enzyme activity in nephrotic syndrome. Turk J Pediatr (1980) 0.75
A rare cause of acute tubulointerstitial nephritis: Salmonella typhimurium infection. Nephrol Dial Transplant (1997) 0.75
An equation for computing expected birth measurements (including birthweight) for the Turkish population (based on pregnancy characteristics). Turk J Pediatr (1982) 0.75
The incidence of fetal malnutrition in Turkey. Turk J Pediatr (1982) 0.75
Iminoglycinuria: a benign type of inherited aminoaciduria. Turk J Pediatr (1994) 0.75
Prenatal diagnosis of cystic fibrosis in a Turkish family. Turk J Pediatr (1993) 0.75
Transient tyrosinemia of the newborn. Turk J Pediatr (1980) 0.75
Beta-ketothiolase deficiency. A case report. Turk J Pediatr (1992) 0.75
Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients. Turk J Pediatr (1993) 0.75
Hereditary fructose intolerance in a patient with phenylketonuria. Turk J Pediatr (1992) 0.75
Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: a report of 16 cases. J Inherit Metab Dis (1993) 0.75
Classical phenylketonuria associated with Goldenhar's syndrome. A case report. Turk J Pediatr (1994) 0.75
Partial C4 deficiency in two children with systemic lupus erythematosus. Turk J Pediatr (1995) 0.75
Dermatoglyphic study in children with phenylketonuria. J Inherit Metab Dis (1989) 0.75
3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency. J Inherit Metab Dis (1993) 0.75
Biotinidase deficiency: a rare cause of laryngeal stridor. Int J Pediatr Otorhinolaryngol (1992) 0.75
Hyperammonemia associated with glycogen storage disease type I. Turk J Pediatr (1982) 0.75
Dilated cardiomyopathy in juvenile chronic arthritis. Scand J Rheumatol (1994) 0.75
Peripheral arterial thrombosis in systemic lupus erythematosis and nephrotic syndrome: possible association with protein S deficiency. Turk J Pediatr (2000) 0.75
High levels of lactate, pyruvate, and alanine in anemic children. Clin Pediatr (Phila) (1988) 0.75
Effects of secondary hyperparathyroidism on cardiac function in pediatric patients on hemodialysis. Turk J Pediatr (1996) 0.75
Acute leucemia in a patient with juvenile rheumatoid arthritis displaying cystic osseous lesions. Turk J Pediatr (1971) 0.75
Scleroderma-like skin lesions in two patients with phenylketonuria. Eur J Pediatr (1990) 0.75
Acute glomerulonephritis associated with acute pneumococcal meningitis. A case report. Int Urol Nephrol (1993) 0.75
Blood ammonia levels in premature and full-term infants. Turk J Pediatr (1982) 0.75