Published in Acta Paediatr Scand on September 01, 1984
Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev (2010) 3.24
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Shwachman-Diamond syndrome: UK perspective. Arch Dis Child (2006) 0.92
Aberrant phagocyte function in Shwachman syndrome. Clin Exp Immunol (1987) 0.85
Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction. Pediatr Blood Cancer (2015) 0.78
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome. Eur J Pediatr (2013) 0.78
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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature (1995) 3.78
Tissue transglutaminase autoantibody enzyme-linked immunosorbent assay in detecting celiac disease. Gastroenterology (1998) 3.22
IgA antigliadin antibodies: a marker of mucosal damage in childhood coeliac disease. Lancet (1983) 3.17
Effect of long term consumption of probiotic milk on infections in children attending day care centres: double blind, randomised trial. BMJ (2001) 2.91
A bovine albumin peptide as a possible trigger of insulin-dependent diabetes mellitus. N Engl J Med (1992) 2.86
Serological markers and HLA genes among healthy first-degree relatives of patients with coeliac disease. Lancet (1991) 2.76
Immunoglobulin-containing cells in the intestinal mucosa and immunoglobulins in the intestinal juice in children. Clin Exp Immunol (1972) 2.34
Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia. Gut (2003) 2.33
Malabsorption syndrome with cow's milk intolerance. Clinical findings and course in 54 cases. Arch Dis Child (1975) 2.00
Muscle-eye-brain disease (MEB) Brain Dev (1989) 2.00
Response of the jejunal mucosa to cow's milk in the malabsorption syndrome with cow's milk intolerance. A light- and electron-microscopic study. Acta Paediatr Scand (1973) 1.98
A genetic test which can be used to diagnose adult-type hypolactasia in children. Gut (2004) 1.95
Effect of long-term consumption of a probiotic bacterium, Lactobacillus rhamnosus GG, in milk on dental caries and caries risk in children. Caries Res (2002) 1.92
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet (1998) 1.85
Congenital nephrotic syndrome: prenatal diagnosis and genetic counselling by estimation of aminotic-fluid and maternal serum alpha-fetoprotein. Lancet (1976) 1.82
Increase in gamma/delta T cell receptor bearing lymphocytes in normal small bowel mucosa in latent coeliac disease. Gut (1991) 1.80
Probiotics in the treatment of atopic eczema/dermatitis syndrome in infants: a double-blind placebo-controlled trial. Allergy (2005) 1.75
Correlation of faecal calprotectin and lactoferrin with an endoscopic score for Crohn's disease and histological findings. Aliment Pharmacol Ther (2008) 1.72
Gastrointestinal complaints and diagnosis in children: a population-based study. Acta Paediatr (2004) 1.66
IgA deficiency in children. Immunoglobulin-containing cells in the intestinal mucosa, immunoglobulins in secretions and serum IgA levels. Clin Exp Immunol (1973) 1.66
Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int (2000) 1.65
Reticulin antibody in children with malabsorption. Lancet (1972) 1.64
Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. Lancet (1998) 1.63
Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment. Am J Med Genet (1984) 1.61
Osteitis caused by bacille Calmette-Guérin vaccination: a retrospective analysis of 222 cases. J Infect Dis (1995) 1.61
The glycosaminoglycan content of renal basement membranes in the congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol (1992) 1.55
Dietary manipulation of beta cell autoimmunity in infants at increased risk of type 1 diabetes: a pilot study. Diabetologia (2005) 1.52
Cow's milk allergy as a predictor of bronchial hyperresponsiveness and airway inflammation at school age. Clin Exp Allergy (2010) 1.50
Intestinal immunoglobulins in children with coeliac disease. Gut (1972) 1.49
An increased level of antibodies to beta-lactoglobulin is a risk determinant for early-onset type 1 (insulin-dependent) diabetes mellitus independent of islet cell antibodies and early introduction of cow's milk. Diabetologia (1992) 1.48
Intraepithelial gamma delta T-cell-receptor lymphocytes and genetic susceptibility to coeliac disease. Lancet (1992) 1.45
Differentiation of kidney mesenchyme in an experimental model system. Adv Morphog (1968) 1.44
Isolated proteinuria: analysis of a school-age population. J Pediatr (1982) 1.43
Prolonged exclusive breast feeding and heredity as determinants in infantile atopy. Arch Dis Child (1987) 1.42
Immunochemical study of the malabsorption syndrome with cow's milk intolerance. Gut (1973) 1.41
"Salla disease": a new lysosomal storage disorder. Arch Neurol (1979) 1.40
Infantile type of so-called neuronal ceroid-lipofuscinosis. Dev Med Child Neurol (1974) 1.39
A model for the involvement of MHC class II proteins in the development of type 1 (insulin-dependent) diabetes mellitus in response to bovine serum albumin peptides. Diabetologia (1993) 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
Differences in immune responses induced by oral and rectal immunizations with Salmonella typhi Ty21a: evidence for compartmentalization within the common mucosal immune system in humans. Infect Immun (1998) 1.36
Clinical findings and intestinal immunoglobulins in children with partial IgA deficiency. Acta Paediatr Scand (1979) 1.32
Microscopic hematuria in school children: epidemiology and clinicopathologic evaluation. J Pediatr (1979) 1.31
Association of postmedication hypocortisolism with early first relapse of idiopathic nephrotic syndrome. Lancet (1977) 1.30
Gene deletions in X-linked muscular dystrophy. Am J Hum Genet (1989) 1.29
Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies. J Neurol Sci (1973) 1.28
Supplementary feeding in maternity hospitals and the risk of cow's milk allergy: A prospective study of 6209 infants. J Allergy Clin Immunol (1999) 1.28
Long-term outcome of primary nephrotic syndrome. Arch Dis Child (1982) 1.28
Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies. Acta Neuropathol (1973) 1.27
Demonstration of laminin, a basement membrane glycoprotein, in routinely processed formalin-fixed human tissues. Histochemistry (1982) 1.27
Morphometric study of the jejunal mucosa in various childhood enteropathies with special reference to intraepithelial lymphocytes. J Pediatr Gastroenterol Nutr (1982) 1.27
Celiac disease in insulin-dependent diabetes mellitus. J Pediatr (1986) 1.24
Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients. J Neurol Sci (1973) 1.22
Cellular expression of xanthine oxidoreductase protein in normal human tissues. Lab Invest (1999) 1.20
Infiltration of forkhead box P3-expressing cells in small intestinal mucosa in coeliac disease but not in type 1 diabetes. Clin Exp Immunol (2008) 1.20
Congenital nephrotic syndrome. Nephron (1973) 1.19
IgA deficiency in children. A clinical study with special reference to intestinal findings. Arch Dis Child (1971) 1.19
Mucosally activated circulating human B cells in diarrhea express homing receptors directing them back to the gut. Gastroenterology (1996) 1.19
Chronic non-specific diarrhoea. Arch Dis Child (1985) 1.17
Prenatal diagnosis of Batten's disease. Lancet (1996) 1.17
Gyrate atrophy of the choroid and retina with hyperornithinemia: tubular aggregates and type 2 fiber atrophy in muscle. Neurology (1979) 1.16
Coeliac disease: frequent occurrence after clinical onset of insulin-dependent diabetes mellitus. Childhood Diabetes in Finland Study Group. Diabet Med (1996) 1.14
Prenatal diagnosis of congenital nephrosis in 23 high-risk families. Am J Dis Child (1978) 1.13
Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. Neurology (1983) 1.13
Lysinuric protein intolerance. Am J Med (1975) 1.11
Cytoplasmic inclusions in the vermiform appendix and skeletal muscle in two types of so-called neuronal ceroid-lipofuscinosis. Brain (1973) 1.11
Undiagnosed coeliac disease is common in Finnish adults. Scand J Gastroenterol (1998) 1.11
The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population. J Med Genet (2007) 1.11
Haplotype analysis to determine the position of a mutation among closely linked DNA markers. Hum Mol Genet (1993) 1.11
Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. Neuromuscul Disord (1995) 1.10
The Trial to Reduce IDDM in the Genetically at Risk (TRIGR) study: recruitment, intervention and follow-up. Diabetologia (2010) 1.10
Mannosidosis: clinical, fine-structural and biochemical findings in three cases. Acta Paediatr Scand (1973) 1.10
T-cell reactivity to wheat gluten in patients with insulin-dependent diabetes mellitus. Scand J Immunol (1998) 1.10
Congenital lactase deficiency. A clinical study on 16 patients. Arch Dis Child (1983) 1.10
Probiotics in infancy induce protective immune profiles that are characteristic for chronic low-grade inflammation. Clin Exp Allergy (2008) 1.10
Time of appearance of immunoglobulin-containing cells in the mucosa of the neonatal intestine. Pediatr Res (1980) 1.10
Transcriptional downregulation of the lactase (LCT) gene during childhood. Gut (2005) 1.09
Frequency and nature of relapses in children suffering from the malabsorption syndrome with gluten intolerance. Acta Paediatr Scand (1970) 1.09
Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia. Eur J Pediatr (1998) 1.09
Glutamate decarboxylase-reactive peripheral blood lymphocytes from patients with IDDM express gut-specific homing receptor alpha4beta7-integrin. Diabetes (1997) 1.08
Henoch-Schönlein nephritis: long-term prognosis of unselected patients. Arch Dis Child (1981) 1.08
Late mucosal relapse in a boy with coeliac disease and cow's milk allergy. Acta Paediatr Scand (1986) 1.07
Immunoglobulin E specific to wheat and rye flour proteins. Clin Allergy (1977) 1.06
C-reactive protein compared with white blood cell count and erythrocyte sedimentation rate in the diagnosis of acute appendicitis in children. Acta Chir Scand (1986) 1.06
Changes in lactate dehydrogenase and esterase-specific activities, isozymic patterns, and cellular distribution during the growth cycle of PK cells in vitro. Exp Cell Res (1970) 1.06
Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome. Pediatr Res (1995) 1.04
Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene. Am J Hum Genet (1998) 1.04
Supplementary creatine as a treatment for gyrate atrophy of the choroid and retina. N Engl J Med (1981) 1.03
Glomerular sclerosis in kidneys with congenital nephrotic syndrome (NPHS1). Kidney Int (2006) 1.03
Development of immune response to cow's milk proteins in infants receiving cow's milk or hydrolyzed formula. J Allergy Clin Immunol (1995) 1.02
Infantile colic and feeding. Arch Dis Child (1986) 1.02
Homing potentials of circulating antibody-secreting cells after administration of oral or parenteral protein or polysaccharide vaccine in humans. Vaccine (1999) 1.02
Chronic osteomyelitislike disease with negative bacterial cultures. Am J Dis Child (1988) 1.02
A variant of Jansky-Bielschowsky disease. Neuropediatrics (1982) 1.01
Cellular and humoral immmunity in cartilage-hair hypoplasia. Pediatr Res (1978) 1.01
Pathology of congenital nemaline myopathy. A follow-up study. J Neurol Sci (1988) 1.00