Published in J Inherit Metab Dis on January 01, 1990
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Transforming growth factor-beta1 induces desmoplasia in an experimental model of human pancreatic carcinoma. Cancer Res (2001) 1.88
Normal gastric histology in Helicobacter pylori-infected children. J Pediatr Gastroenterol Nutr (1997) 1.51
[Embryofetopathy due to valproate: a pathology only little known. Apropos of 4 cases]. Arch Pediatr (1996) 1.48
Brachmann-de Lange syndrome: pre- and postnatal findings. Am J Med Genet (1996) 1.44
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Nutritional impact of antipseudomonas intravenous antibiotic courses in cystic fibrosis. Arch Dis Child (1997) 1.36
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Economic evaluation of cost-benefit ratio of neonatal screening procedure for phenylketonuria and hypothyroidism. J Inherit Metab Dis (1991) 1.13
Prenatal diagnosis of thrombocytopenia-absent radius syndrome. Fetal Diagn Ther (1996) 1.11
Liver transplantation for ornithine transcarbamylase deficiency in a girl. J Pediatr (1989) 1.10
Apolipoprotein B metabolism in homozygous familial hypercholesterolemia. J Lipid Res (1989) 1.09
Neuropathology of citrullinaemia. Acta Neuropathol (1982) 1.09
Familial hyperinsulinism with nesidioblastosis of the pancreas: further evidence for autosomal recessive inheritance. Am J Med Genet (1989) 1.08
Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis. Eur J Biochem (1977) 1.08
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. J Med Genet (1996) 1.06
Pancreatic adenocarcinoma cell lines show variable susceptibility to TRAIL-mediated cell death. Pancreas (2001) 1.04
Deficit in neuraminidase associated with mucolipidosis II (I-cell disease). Biomedicine (1976) 1.02
Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience. J Inherit Metab Dis (1991) 1.00
Association between the angiotensin-converting enzyme-insertion/deletion polymorphism and diabetic nephropathy: a methodologic appraisal and systematic review. J Am Soc Nephrol (1998) 1.00
Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus. Hum Genet (1991) 0.99
Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria. J Inherit Metab Dis (2003) 0.99
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Pulmonary hypertension of the newborn and urogenital anomalies in two male siblings: a new family with misalignment of pulmonary vessels. Genet Couns (1996) 0.96
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Omodysplasia. Am J Med Genet (1989) 0.92
Tumor necrosis factor-alpha--308 G/A polymorphism in obese Caucasians. Int J Obes Relat Metab Disord (2001) 0.92
Menkes kinky-hair disease. A report on its pathology. Acta Neuropathol (1978) 0.92
Tolerance, pharmacokinetics and efficacy of once daily amikacin for treatment of Pseudomonas aeruginosa pulmonary exacerbations in cystic fibrosis patients. Eur J Pediatr (1996) 0.90
Metabolic and hemodynamic response of adipose tissue to angiotensin II. Obes Res (2001) 0.90
Alternate splicing at the 3'-end of the human pancreatic tumor-associated mucin MUC4 cDNA. Teratog Carcinog Mutagen (2001) 0.90
Vertebral osteitis following BCG vaccination in a previously healthy child. Eur J Pediatr (1990) 0.89
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Nutritional status of children with acute lymphoblastic leukemia: a longitudinal study. Am J Clin Nutr (1997) 0.89
Helicobacter pylori infection in cohabiting children. Lancet (1991) 0.88
Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. Am J Med Genet (1998) 0.88
Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms. Acta Paediatr Scand (1977) 0.88
Intellectual and school performances in early-treated classical PKU patients. The French collaborative study. Eur J Pediatr (1987) 0.88
Ribosomal highly basic 23-kDa protein as a reliable standard for gene expression analysis. Pancreatology (2002) 0.88
[A familial case of eyelip ptosis with blepharophimosis and epicanthus inversus]. J Genet Hum (1974) 0.88
Hypercalcemia in infants with congenital hypothyroidism and its relation to vitamin D and thyroid hormones. J Pediatr (1986) 0.87
Percutaneous endoscopic gastrostomy in children: influence on gastroesophageal reflux. Pediatrics (1996) 0.87
Improved method for the antenatal diagnosis of citrullinemia. Clin Chim Acta (1981) 0.87
Intraoperative endoscopic diagnosis of heterotopic gastric mucosa in the ileum causing recurrent acute intussusception. J Pediatr Gastroenterol Nutr (1990) 0.87
Intestinal permeability to [51Cr]EDTA in children with Crohn's disease and celiac disease. J Pediatr Gastroenterol Nutr (1988) 0.85
Letter: Nonketotic hyperglycinemia with increased propionic acid excretion and hyperammonemia. N Engl J Med (1976) 0.85
[Mannosidosis: a simple diagnosis]. Arch Fr Pediatr (1976) 0.85
Developmental aspects of pteridine metabolism and relationships with phenylalanine metabolism. Clin Chim Acta (1981) 0.84
Guanosine triphosphate cyclohydrolase activity in rat tissues. Biochem J (1984) 0.84
Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: "I cell disease" and two new types of mucolipidosis. Biochim Biophys Acta (1976) 0.84
Resting energy expenditure and energy substrate utilization in children with Duchenne muscular dystrophy. Pediatr Res (1996) 0.84
[Familial case of the syndrome of ectrodactyly and mandibulo-facial dysostosis]. J Genet Hum (1974) 0.84
Sex hormone-binding globulin in the diagnosis of peripheral tissue resistance to thyroid hormone: the value of changes after short term triiodothyronine administration. J Clin Endocrinol Metab (1988) 0.84
[Craniosynostosis (study of 20 cases)]. Arch Fr Pediatr (1967) 0.84
Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine. Clin Chim Acta (1983) 0.84
CD44 in normal human pancreas and pancreatic carcinoma cell lines. Teratog Carcinog Mutagen (2001) 0.84
[Blue rubber bleb nevus syndrome. 3 cases treated with a Nd:YAG laser and bipolar electrocoagulation]. Gastroenterol Clin Biol (1990) 0.84
Atypical cases of phenylketonuria. Eur J Pediatr (1987) 0.83
Influence of recombinant interferon alpha on nutritional status and growth pattern in children with chronic viral hepatitis. Eur J Pediatr (1996) 0.83
[Sialuria: an original metabolic disorder]. Helv Paediatr Acta (1968) 0.82
Letter: Pseudohypoparathyroidism. Biting insect summary. Am J Dis Child (1976) 0.82
Food-induced bleeding from lymphonodular hyperplasia of the colon. Am J Dis Child (1993) 0.82
Intrahepatic cholestasis related to vanishing bile duct syndrome in Hodgkin's disease. J Pediatr Gastroenterol Nutr (1997) 0.82
Improvement of nutritional status in cholestatic children with supplemental nocturnal enteral nutrition. J Pediatr Gastroenterol Nutr (1991) 0.82
Ocular findings in I-cell disease (mucolipidosis type II). Am J Ophthalmol (1977) 0.82
Prenatal diagnosis of metatropic dwarfism. Prenat Diagn (1995) 0.82
[Xylose test. Correlation with small bowel histology (author's transl)]. Ann Pediatr (Paris) (1980) 0.81
Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis. Arch Dis Child Fetal Neonatal Ed (1999) 0.81
Metaphyseal acroscyphodysplasia. Clin Genet (1991) 0.81
Apoptotic molecules in pancreatic carcinoma cell lines. Ann N Y Acad Sci (1999) 0.81
Chronic intestinal pseudo-obstruction associated with cytomegalovirus infection in an infant. J Pediatr Gastroenterol Nutr (1996) 0.81
[2 new cases of homocystinuria]. Lille Med (1968) 0.81
[Type I hyperprolinemia. Study of a familial case]. Helv Paediatr Acta (1970) 0.81
[Proceedings: Pure spondyloepiphyseal dysplasia or brachyolmia]. Arch Fr Pediatr (1975) 0.81
Hpa II polymorphism of the atrial natriuretic peptide gene and the blood pressure response to salt intake in normotensive men. J Hypertens (1997) 0.81
[The GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). A new case report]. J Genet Hum (1988) 0.81
Unusual segregation of cystic fibrosis allele to males. Nature (1988) 0.80
Phenylalanine analogues as inhibitors of phenylalanine-hydroxylase from rat liver. New conclusions concerning kinetic behaviors of the enzyme. Biochimie (1978) 0.80
Hypercholesterolemia, portacaval shunt and coronary disease. N Engl J Med (1979) 0.80
[Type II mucolipidosis (I-cell disease)]. Arch Fr Pediatr (1975) 0.80
Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiency. Eur J Pediatr (1988) 0.80
[Congenital spondyloepiphyseal dysplasia. A case]. Pediatrie (1971) 0.80
[Treatment of type II familial hypercholesteremia through portacaval anastomosis]. Arch Fr Pediatr (1976) 0.80
[Attempt to treat a case of chronic familial granulomatous disease by allogenic bone marrow transplantation]. Arch Fr Pediatr (1976) 0.80
Genetic variants of the renin-angiotensin system and ambulatory blood pressure in essential hypertension. J Hypertens (1997) 0.80
A thyroxine dosage of 8 micrograms/kg per day is appropriate for the initial treatment of the majority of infants with congenital hypothyroidism. Eur J Pediatr (1997) 0.79
Datapoints: psychotropic medication costs among youth with private insurance in 1998. Psychiatr Serv (2001) 0.79
[Cystic fibrosis: the French neonatal screening organization, preliminary results]. Arch Pediatr (2005) 0.79
[Mannonidosis. Apropos of 5 cases]. Nouv Presse Med (1975) 0.79
Prognostic value of esophageal manometry in antireflux surgery in childhood. J Pediatr Gastroenterol Nutr (1994) 0.79
[Pyridoxine-dependent convulsions. Apropos of a further case]. Pediatrie (1972) 0.79
2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria. Biochim Biophys Acta (1979) 0.79
[Cow's milk proteins intolerance disclosed by ulcero-necrotizing enterocolitis in a full-term infant]. Arch Fr Pediatr (1993) 0.78
CD44, bFGF and hyaluronan in human pancreatic cancer cell lines. Ann N Y Acad Sci (1999) 0.78