Published in Biochim Biophys Acta on May 27, 1976
Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia. J Med Genet (1978) 0.87
Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease. J Inherit Metab Dis (2012) 0.83
A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts. JIMD Rep (2015) 0.79
Lipid profile in adult patients with Fabry disease - Ten-year follow up. Mol Genet Metab Rep (2017) 0.75
Synergism of carbenicillin and gentamicin against enterococci. Antimicrob Agents Chemother (1973) 2.60
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet (1992) 2.41
Comparative pharmacokinetics of amikacin and kanamycin. Clin Pharmacol Ther (1974) 2.15
Inactivation of cefazolin, cephaloridine, and cephalothin by methicillin-sensitive and methicillin-resistant strains of Staphylococcus aureus. J Infect Dis (1975) 1.94
Lymphocyte recruitment in delayed-type hypersensitivity. The role of IFN-gamma. J Immunol (1988) 1.92
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis (2009) 1.89
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests. N Engl J Med (1990) 1.78
Pancreatitis in patients with organic acidemias. J Pediatr (1994) 1.73
Postanesthetic apnea in full-term infants after pyloromyotomy. Anesthesiology (1994) 1.67
Copper-histidine therapy for Menkes disease. J Pediatr (1993) 1.56
Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. Am J Hum Genet (1991) 1.44
A simple method for the maintenance of oxygen saturation following intravenous induction of anaesthesia with propofol. Anaesthesia (1994) 1.39
The conversion of phenylalanine to tyrosine in man. Direct measurement by continuous intravenous tracer infusions of L-[ring-2H5]phenylalanine and L-[1-13C] tyrosine in the postabsorptive state. Metabolism (1982) 1.38
Enzyme replacement therapy by renal allotransplantation in Fabry's disease. N Engl J Med (1972) 1.38
Ticarcillin vs carbenicillin: clinical pharmacokinetics. Clin Pharmacol Ther (1975) 1.37
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am J Med Genet (1998) 1.31
Barth syndrome: clinical observations and genetic linkage studies. Am J Med Genet (1994) 1.31
Solar wind dynamic pressure and electric field as the main factors controlling Saturn's aurorae. Nature (2005) 1.30
Arteriopathy and coarctation of the abdominal aorta in children with mucopolysaccharidosis: imaging findings. AJR Am J Roentgenol (1991) 1.29
Pharmacokinetics of parenteral sodium cephalexin in comparison with cephalothin and cefazolin. Infection (1974) 1.28
Clinical pharmacology of amikacin and kanamycin. J Infect Dis (1976) 1.26
Pharmacokinetics of metronidazole as determined by bioassay. Antimicrob Agents Chemother (1974) 1.21
Stimulation of lymphocyte migration by endotoxin, tumor necrosis factor, and interferon. Cell Immunol (1989) 1.14
An Earth-like correspondence between Saturn's auroral features and radio emission. Nature (2005) 1.10
A genetic analysis of non-disjunction and mitotic recombination in Neurospora crassa. Genet Res (1970) 1.10
High-level gentamicin resistance in Enterococcus faecalis bacteremia. J Infect Dis (1991) 1.07
Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy. J Child Neurol (1995) 1.07
Funding crisis of the national health research and development program. Can Med Assoc J (1979) 1.07
Ceramide trihexosidosis (fabry's disease) without skin lesions. N Engl J Med (1971) 1.05
Early copper-histidine treatment for Menkes disease. Nat Genet (1996) 1.05
Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis. Biochem J (2000) 1.02
The recruitment of lymphocytes into the skin by T cell lymphokines: the role of gamma-interferon. Clin Exp Immunol (1988) 1.02
Treatment of familial hypercholesterolemia in children and adolescents: effect of lovastatin. Canadian Lovastatin in Children Study Group. Pediatrics (1996) 1.01
Maternal phenylketonuria (PKU)--a review. Clin Biochem (1987) 1.00
Lymphocyte recruitment in vaccinia virus-induced cutaneous delayed-type hypersensitivity. Immunology (1986) 0.99
Ornithine transcarbamylase deficiency presenting with strokelike episodes. J Pediatr (1993) 0.99
Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus. Am J Med Genet (1991) 0.98
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies. Hum Mutat (1992) 0.98
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. Am J Hum Genet (1998) 0.96
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. Ann Neurol (1991) 0.94
Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. Lancet (1993) 0.93
Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders. Am J Med Genet (1994) 0.93
Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues. J Clin Psychiatry (1995) 0.91
Catabolism of exogenous and endogenous sphingomyelin and phosphatidylcholine by homogenates and subcellular fractions of cultured neuroblastoma cells. Effects of anesthetics. J Neurochem (1985) 0.91
Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. Metabolism (1998) 0.91
Pulmonary infiltration in Niemann-Pick disease type C. J Inherit Metab Dis (1996) 0.90
Evolution of the neuroimaging changes in fucosidosis type II. J Inherit Metab Dis (1996) 0.89
Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. Eur J Pediatr (1996) 0.89
The effect of vincristine on skeletal muscle in the rat. A correlative histochemical, ultrastructural and chemical study. J Neuropathol Exp Neurol (1972) 0.89
Glaucoma as an early complication of Hurler's disease. Arch Dis Child (1988) 0.89
Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model? Biochem Med Metab Biol (1994) 0.88
Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia. J Med Genet (1978) 0.87
Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease. Am J Hum Genet (1996) 0.87
Feto-maternal plasma phenylalanine concentration gradient from 19 weeks gestation to term. Clin Chim Acta (1994) 0.87
Suppression of lymphocyte proliferation by Pseudomonas aeruginosa: mediation by Pseudomonas-activated suppressor monocytes. Infect Immun (1985) 0.87
Pathways of sphingomyelin metabolism in cultured fibroblasts from normal and sphingomyelin lipidosis subjects. J Biol Chem (1983) 0.87
Salmonella arizonae bacteremia as the presenting manifestation of human immunodeficiency virus infection following rattlesnake meat ingestion. Rev Infect Dis (1990) 0.86
Role of interferon in lymphocyte recruitment into the skin. Cell Immunol (1986) 0.86
Experience with adolescents with phenylketonuria returned to phenylalanine-restricted diets. J Am Diet Assoc (1986) 0.86
"Hypotyrosinemia" in phenylketonuria. Mol Genet Metab (2000) 0.86
A pulsating auroral X-ray hot spot on Jupiter. Nature (2002) 0.86
Enzyme replacement therapy for Gaucher's disease: the early Canadian experience. CMAJ (1998) 0.86
Uptake of radiolabeled galactosyl-(alpha1 goes to 4)-galactosyl-(beta1 goes to 4)-glucosylceramide by human serum lipoproteins in vitro. Biochim Biophys Acta (1976) 0.85
Rapid isolation of neuroblastoma plasma membranes on Percoll gradients. Characterization and lipid composition. Biochim Biophys Acta (1985) 0.85
An auroral flare at Jupiter. Nature (2001) 0.85
Randomised controlled trial of tyrosine supplementation on neuropsychological performance in phenylketonuria. Arch Dis Child (1998) 0.85
Hyperphenylalaninemia: effect on the developing rat brain. Can J Biochem (1969) 0.84
Cardiac transplantation for Fabry's disease. Can J Cardiol (1998) 0.84
Deletion 4q21/4q22 syndrome: two patients with de novo 4q21.3q23 and 4q13.2q23 deletions. Am J Med Genet (1997) 0.83
Induction of hemopoietic chimerism in the caprine fetus by intraperitoneal injection of fetal liver cells. Experientia (1989) 0.82
Properties and prenatal ontogeny of beta-D-mannosidase in selected goat tissues. Biochem J (1987) 0.82
Newborn phenylketonuria (PKU) Guthrie (BIA) screening and early hospital discharge. Early Hum Dev (1997) 0.82
Neuropsychological function in mild hyperphenylalaninemia. Am J Ment Retard (2000) 0.82
The glycosphingolipids of human plasma lipoproteins. Can J Biochem (1981) 0.81
Fatal combined defects in mitochondrial multienzyme complexes in two siblings. Eur J Pediatr (1992) 0.81
Use of esmolol in a parturient with hypertrophic obstructive cardiomyopathy. Br J Anaesth (1995) 0.81
Lethal cardiac tachyarrhythmia in a patient with neonatal carnitine-acylcarnitine translocase deficiency. Pediatr Dev Pathol (2002) 0.81
Prepaid entitlements. A new challenge for physician-patient relationships. JAMA (1985) 0.80
Involvement of triacylglycerol in the metabolism of fatty acids by cultured neuroblastoma and glioma cells. J Lipid Res (1982) 0.80
Early infantile variant of Krabbe globoid cell leucodystrophy with lung involvement. Arch Dis Child (1981) 0.80
Low iron stores in infants and children with treated phenylketonuria: a population at risk for iron-deficiency anaemia and associated cognitive deficits. Eur J Pediatr (1993) 0.80
Organic acidurias and related abnormalities. Crit Rev Clin Lab Sci (1995) 0.80
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis. Hum Mutat (1998) 0.79
Peripheral and autonomic nervous system involvement in chronic GM2-gangliosidosis. J Inherit Metab Dis (2001) 0.79
Tyrosine requirements in children with classical PKU determined by indicator amino acid oxidation. Am J Physiol Endocrinol Metab (2000) 0.79
Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts. J Pediatr (1993) 0.79
Central nervous system malformations in ethylmalonic encephalopathy. Am J Med Genet (1998) 0.79
De-escalating verbal aggression in primary care settings. Nurse Pract (1996) 0.78
Undiagnosed phenylketonuria in adult women: a hidden public health problem. CMAJ (1990) 0.78
Evidence for a terminal -D-galactopyranosyl residue in galactosylgalactosylglucosylceramide from human kidney. J Biol Chem (1971) 0.78
Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure. J Inherit Metab Dis (2000) 0.78
The management of otolaryngological problems in the mucopolysaccharidoses: a retrospective review. J Otolaryngol (1991) 0.78
An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency. Eur J Pediatr (1993) 0.78
Stability of plasma low density lipoprotein with abnormal glycolipid composition from patients with Fabry's disease. Atherosclerosis (1980) 0.78
Studies on the turnover of endogenous choline-containing phospholipids of cultured neuroblastoma cells. Biochim Biophys Acta (1983) 0.77
Cytidine-5'-monophospho-N-acetylneuraminic acid galactosyl-N-acetylgalactosaminyl-(N-acetylneuraminyl)-galactosyl-glucosylceramide sialyltransferase in the neurohypophysis of the rabbit. Biochim Biophys Acta (1976) 0.77
Human pharmacokinetics of BL-P1654 compared with ampicillin. Antimicrob Agents Chemother (1974) 0.77