Published in J Inherit Metab Dis on January 01, 1990
Fatty acid oxidation in the human fetus: implications for fetal and adult disease. J Inherit Metab Dis (2006) 0.87
Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature. Orphanet J Rare Dis (2012) 0.82
Sucrose non-fermenting related kinase enzyme is essential for cardiac metabolism. Biol Open (2014) 0.81
Toxic-shock syndrome in menstruating women: association with tampon use and Staphylococcus aureus and clinical features in 52 cases. N Engl J Med (1980) 7.85
Severity of asthma is related to endotoxin in house dust. Am J Respir Crit Care Med (1996) 4.44
Measuring the impact of water supply and sanitation investments on diarrhoeal diseases: problems of methodology. Int J Epidemiol (1983) 4.12
Thyroid volume and urinary iodine in European schoolchildren: standardization of values for assessment of iodine deficiency. Eur J Endocrinol (1997) 2.10
Sleep and cardiorespiratory characteristics of infant victims of sudden death: a prospective case-control study. Sleep (1992) 2.07
Domestic endotoxin exposure and clinical severity of asthma. Clin Exp Allergy (1991) 1.90
Attitudes and practices of U.S. oncologists regarding euthanasia and physician-assisted suicide. Ann Intern Med (2000) 1.90
Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome. Am J Med Genet (2000) 1.70
Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31 204 newborns. J Clin Pathol (2009) 1.65
Possible role of phenothiazines in sudden infant death. Lancet (1979) 1.60
Delineation of two distinct 6p deletion syndromes. Hum Genet (1999) 1.59
Diagnosis of enterovirus infection by polymerase chain reaction of multiple specimen types. Pediatr Infect Dis J (1997) 1.52
Neonatal screening and clinical care programmes for sickle cell disorders in sub-Saharan Africa: lessons from pilot studies. Public Health (2008) 1.49
Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Moroccan siblings. Am J Med Genet (1990) 1.47
Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. J Clin Invest (1994) 1.46
Sleep problems in healthy preadolescents. Pediatrics (1989) 1.45
Psychosocial barriers to cancer pain relief. Cancer Pract (1995) 1.41
Secondary structure and orientation of the surfactant protein SP-B in a lipid environment. A Fourier transform infrared spectroscopy study. Biochemistry (1992) 1.28
Structure and orientation of the surfactant-associated protein C in a lipid bilayer. Eur J Biochem (1992) 1.24
Inguinal hernia: a patch covering only the myopectineal orifice is effective. Hernia (2001) 1.24
Clinical significance of enteroviruses in serious summer febrile illnesses of children. Pediatr Infect Dis J (1999) 1.19
Noncompliance in the treatment of endocarditis. The medical staff as co-conspirators. Gen Hosp Psychiatry (1988) 1.19
Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome. Am J Med Genet (1997) 1.15
Home monitoring of infants considered at risk for the sudden infant death syndrome. Four years' experience (1977-1981). Eur J Pediatr (1982) 1.15
Pathologic findings in twelve fatal cases of toxic shock syndrome. Ann Intern Med (1982) 1.15
Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings. Eur J Pediatr (1982) 1.13
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology (1992) 1.10
Phenothiazines and sudden infant death syndrome. Pediatrics (1982) 1.10
The epidemiology of acute diarrhoea in a rural community in Imo State, Nigeria. Trans R Soc Trop Med Hyg (1987) 1.09
Polysomnographic studies of infants who subsequently died of sudden infant death syndrome. Pediatrics (1988) 1.09
Disability from dracunculiasis: effect on mobility. Ann Trop Med Parasitol (1989) 1.07
Influence of the degree of metabolic control on physical fitness in type I diabetic adolescents. Int J Sports Med (1986) 1.07
Studies on hypoglycaemia in small-for-dates newborns. Arch Dis Child (1969) 1.07
Phenothiazine-induced sleep apneas in normal infants. Pediatrics (1985) 1.07
A critical comparison of the history of sudden-death infants and infants hospitalised for near-miss for SIDS. Eur J Pediatr (1984) 1.06
Hb Belliard [alpha 56(E5)Lys----Asn] a new fast-moving alpha chain variant found in a subject of Spanish origin. Hemoglobin (1989) 1.06
Erythrocyte and plasma antioxidant activity and subclinical complications in young diabetic patients. Diabetes Care (1996) 1.06
Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia. Diabetologia (1993) 1.05
Vitamin A supplementation but not deworming improves growth of malnourished preschool children in eastern Zaire. J Nutr (1998) 1.04
Partial trisomy 3p in two siblings: clinical and pathological findings. Eur J Pediatr (1983) 1.04
The effects of distance and season on the use of boreholes in northeastern Imo State, Nigeria. J Trop Med Hyg (1987) 1.04
Transinguinal preperitoneal repair with the Polysoft patch: prospective evaluation of recurrence and chronic pain. Hernia (2007) 1.03
Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. Hum Genet (1991) 1.01
A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome. Hum Genet (1996) 1.00
Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency. Eur J Pediatr (1997) 0.99
Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion. Hum Genet (1998) 0.99
Functional results of coloanal anastomosis with reservoir. Dis Colon Rectum (1992) 0.98
Isolated extragenital bowenoid papulosis of the neck. J Am Acad Dermatol (1999) 0.97
Dalcetrapib: no off-target toxicity on blood pressure or on genes related to the renin-angiotensin-aldosterone system in rats. Br J Pharmacol (2009) 0.97
Alveolar soft-part sarcoma: further evidence by FISH for the involvement of chromosome band 17q25. Genes Chromosomes Cancer (1998) 0.96
Neonatal haemoglobinopathy screening in Belgium. J Clin Pathol (2009) 0.96
Nuclear factor-kappa B activation in permanent intraluminal focal cerebral ischemia in the rat. Neurosci Lett (2000) 0.95
Purulent cryptococcal meningitis. Mt Sinai J Med (1979) 0.95
Controlled fall in natremia and risk of seizures in hypertonic dehydration. Intensive Care Med (1979) 0.94
Impact of home monitoring for sudden infant death syndrome on family life. A controlled study. Eur J Pediatr (1987) 0.93
The Imo State (Nigeria) Drinking Water Supply and Sanitation Project, 2. Impact on dracunculiasis, diarrhoea and nutritional status. Trans R Soc Trop Med Hyg (1990) 0.93
Assessment of ganaxolone's anticonvulsant activity using a randomized, double-blind, presurgical trial design. Ganaxolone Presurgical Study Group. Epilepsia (2000) 0.93
Enteritis, abscess, and septicemia due to Yersinia enterocolitica in a child with thalassemia. J Pediatr (1978) 0.92
Vasopressin and gonadotropin deficiency in a boy with the ectrodactyly-ectodermal dysplasia-clefting syndrome. Acta Paediatr (1992) 0.92
Urinary iodine excretion during normal pregnancy in healthy women living in the southwest of France: correlation with maternal thyroid parameters. Thyroid (1997) 0.92
Examining the impact of illness representations on psychological adjustment to chronic illnesses. Health Psychol (1998) 0.92
The Polysoft patch: prospective evaluation of feasibility, postoperative pain and recovery. Hernia (2007) 0.91
Familial syringoma. Case history and application of monoclonal anti-eccrine gland antibodies. Arch Dermatol (1985) 0.91
Selenium deficiency. Clin Endocrinol Metab (1985) 0.90
Deletion of chromosome 11p13-11p15.5 sequences in invasive human ovarian cancer is a subclonal progression factor. Cancer Res (1992) 0.90
Safe oral rehydration of hypertonic dehydration. J Pediatr Gastroenterol Nutr (1986) 0.90
[Septicemia caused by Yersinia enterocolitica in 2 children with major thalassemia]. Arch Fr Pediatr (1970) 0.90
Controlled delivery of glial cell line-derived neurotrophic factor by a single tetracycline-inducible AAV vector. Exp Neurol (2007) 0.90
Neonatal tuberous sclerosis. US, CT, and MR diagnosis of brain and cardiac lesions. Pediatr Radiol (1989) 0.89
Accidental ingestion of mercuric sulphate in a 4-year-old child. Management with BAL and peritoneal dialysis. Clin Pediatr (Phila) (1977) 0.89
Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis. Pediatr Neurol (1993) 0.89
Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types. Am J Med Genet (1993) 0.89
Prevalence of sickle cell disease in a northeastern region of the Democratic Republic of Congo: what impact on transfusion policy? Transfus Med (2009) 0.88
Factors for poor prognosis in fulminating meningococcemia. Conclusions from observations of 67 childhood cases. Clin Pediatr (Phila) (1978) 0.88
Lower-limb hypoplasia due to intrauterine infection with herpes simplex virus type 2: possible confusion with intrauterine varicella-zoster syndrome. Clin Infect Dis (2004) 0.88
Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs. Am J Med Genet (1988) 0.87
Prenatal diagnosis and confirmation of infantile sialic acid storage disease. Prenat Diagn (1987) 0.87
Glucose electrolyte solutions in a European context. Lancet (1981) 0.87
Purine enzyme levels in rheumatoid arthritis. J Rheumatol (1985) 0.87
Congenital stridor in infancy. Clinical lessons derived from a survey of 31 instances. Clin Pediatr (Phila) (1977) 0.87
Selenium supplementation in healthy Belgian adults: response in platelet glutathione peroxidase activity and other blood indices. Am J Clin Nutr (1988) 0.86
Leukemia in a trisomy 21 mosaic: specific involvement of the trisomic cells. Cancer Genet Cytogenet (1986) 0.86
Frequent deletion of chromosome 19 and a rare rearrangement of 19p13.3 involving the insulin receptor gene in human ovarian cancer. Oncogene (1995) 0.86
A practical, reliable method for preparing simple sugar/salt oral rehydration solution. J Trop Med Hyg (1981) 0.86
Transplanted sickle-cell disease patients with autologous bone marrow recovery after graft failure develop increased levels of fetal haemoglobin which corrects disease severity. Br J Haematol (1995) 0.85
Solvent-detergent filtered (S/D-F) fresh frozen plasma and cryoprecipitate minipools prepared in a newly designed integral disposable processing bag system. Transfus Med (2009) 0.85
Oculocardiac reflex in near miss for sudden infant death syndrome infants. Pediatrics (1983) 0.85
A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis. J Inherit Metab Dis (1996) 0.85
Congenital malformations in 10,000 consecutive births in a university hospital: need for genetic counseling and prenatal diagnosis. J Pediatr (1984) 0.85
Hyperkalaemia and UNICEF type rehydration solutions. Lancet (1980) 0.85
Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit. Hum Genet (1992) 0.84
Methyl alcohol poisoning in an 8-month-old boy: an unusual route of intoxication. J Pediatr (1979) 0.84
[Erythrocyte and plasma antioxidant activity in diabetes mellitus type I]. Presse Med (1996) 0.84
Idiopathic infantile arterial calcification: a surviving patient with renal artery stenosis. Pediatr Radiol (1994) 0.84
Thymidine kinase and thymidine phosphorylase activities in various types of leukaemia and lymphoma. Tumour Biol (1984) 0.84
Obstructive sleep apnea induced by a parapharyngeal cystic hygroma in an infant. Sleep (1985) 0.83
Nasal occlusion during sleep in normal and near-miss for sudden death syndrome infants. Bull Eur Physiopathol Respir (1987) 0.83
Sudden infant death syndrome in a twin: a comparison of sibling histories. Pediatrics (1986) 0.83
Transepidermal water loss during sleep in infants at risk for sudden death. Pediatrics (1987) 0.83