Published in Am J Med on August 01, 1975
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Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat Genet (1999) 1.65
Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. Lancet (1998) 1.63
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. Nat Genet (2000) 1.63
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Longitudinal reproductive hormone profiles in infants: peak of inhibin B levels in infant boys exceeds levels in adult men. J Clin Endocrinol Metab (1998) 1.60
Non-class II HLA gene associated with type 1 diabetes maps to the 240-kb region near HLA-B. Diabetes (2000) 1.58
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The glycosaminoglycan content of renal basement membranes in the congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol (1992) 1.55
Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia. Br J Ophthalmol (1974) 1.54
An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet (1994) 1.53
Receptor for advanced glycation end-products (RAGE) provides a link between genetic susceptibility and environmental factors in type 1 diabetes. Diabetologia (2011) 1.51
Methionine in paracetamol tablets, a tool to reduce paracetamol toxicity. Int J Clin Pharmacol Ther Toxicol (1985) 1.50
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Temporal changes in the frequencies of HLA genotypes in patients with Type 1 diabetes--indication of an increased environmental pressure? Diabetologia (2003) 1.41
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Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia. Neurology (1999) 1.39
Progressive unilateral hypertrophic myopathy: a case study. Muscle Nerve (1993) 1.39
Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18. Arch Dis Child (1973) 1.38
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Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies. J Neurol Sci (1973) 1.28
Dynamics of diabetes-associated autoantibodies in young children with human leukocyte antigen-conferred risk of type 1 diabetes recruited from the general population. J Clin Endocrinol Metab (2005) 1.28
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Demonstration of laminin, a basement membrane glycoprotein, in routinely processed formalin-fixed human tissues. Histochemistry (1982) 1.27
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Exclusively breast-fed healthy infants grow slower than reference infants. Pediatr Res (1985) 1.23
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Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients. J Neurol Sci (1973) 1.22
A novel format for a growth chart. Acta Paediatr Scand (1984) 1.22
Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of four pediatric patients. Hum Pathol (1994) 1.21
Ly-6C regulates endothelial adhesion and homing of CD8(+) T cells by activating integrin-dependent adhesion pathways. Proc Natl Acad Sci U S A (1997) 1.20
Cellular expression of xanthine oxidoreductase protein in normal human tissues. Lab Invest (1999) 1.20
Congenital nephrotic syndrome. Nephron (1973) 1.19
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Randomised prospective study of short-term and long-term initial stay in hospital by children with diabetes mellitus. Lancet (1991) 1.17
Chronic non-specific diarrhoea. Arch Dis Child (1985) 1.17
Prenatal diagnosis of Batten's disease. Lancet (1996) 1.17
Increased prevalence of coeliac disease in diabetes. Arch Dis Child (1984) 1.16
Gyrate atrophy of the choroid and retina with hyperornithinemia: tubular aggregates and type 2 fiber atrophy in muscle. Neurology (1979) 1.16
Short-term exclusive breastfeeding predisposes young children with increased genetic risk of Type I diabetes to progressive beta-cell autoimmunity. Diabetologia (2001) 1.15
Epidermal growth factor is a constant component of normal human tear fluid. Graefes Arch Clin Exp Ophthalmol (1989) 1.14
ss-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab (2000) 1.14