Published in Pediatrics on January 01, 1976
Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy. Mol Genet Metab (2008) 1.15
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J Inherit Metab Dis (2010) 1.08
Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. J Inherit Metab Dis (2013) 0.81
Animal model studies of allelism: characterization of arylsulfatase B mutations in homoallelic and heteroallelic (genetic compound) homozygotes with feline mucopolysaccharidosis VI. Genetics (1985) 0.77
Acute myelogenous leukaemia in Hurler's syndrome. J Med Genet (1978) 0.75
Genetic heterogeneity within the chondroitinsulphaturias. J Med Genet (1977) 0.75
The sequence of the human genome. Science (2001) 101.55
Online Mendelian Inheritance in Man (OMIM). Hum Mutat (2000) 7.54
Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight. J Biol Chem (1980) 6.60
The Marfan syndrome: diagnosis and management. N Engl J Med (1979) 6.49
Implications of the Human Genome Project for medical science. JAMA (2001) 5.68
The status of the gene map of the human chromosomes. Science (1977) 5.44
Incidence of fetal alcohol syndrome and prevalence of alcohol-related neurodevelopmental disorder. Teratology (1997) 4.86
International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. Am J Med Genet (1988) 4.84
Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med (2001) 4.28
A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. Biochem Biophys Res Commun (1972) 4.25
Trichuris suis therapy in Crohn's disease. Gut (2005) 4.05
OMIM passes the 1,000-disease-gene mark. Nat Genet (2000) 3.92
Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-l-iduronidase, by cultured human fibroblasts. Cell (1977) 3.79
Life expectancy and causes of death in the Marfan syndrome. N Engl J Med (1972) 3.78
Controversy in human genetics: founder effect in Tay-Sachs disease. Am J Hum Genet (1972) 3.72
Two species of lysosomal organelles in cultured human fibroblasts. Cell (1979) 3.64
Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues. J Biol Chem (1980) 3.48
Inherited disorders of lysosomal metabolism. Annu Rev Biochem (1975) 3.26
Genomics and medicine. Dissecting human disease in the postgenomic era. Science (2001) 2.98
The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide. Proc Natl Acad Sci U S A (1968) 2.89
Patients with Ehlers-Danlos syndrome type IV lack type III collagen. Proc Natl Acad Sci U S A (1975) 2.88
A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts. Biochem Biophys Res Commun (1974) 2.83
Probable assignment of the Duffy blood group locus to chromosome 1 in man. Proc Natl Acad Sci U S A (1968) 2.74
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome. Science (1973) 2.74
Biosynthesis and turnover of the mannose 6-phosphate receptor in cultured Chinese hamster ovary cells. J Biol Chem (1983) 2.73
The effects of moderate alcohol consumption during pregnancy on fetal growth and morphogenesis. J Pediatr (1978) 2.72
Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet (1972) 2.65
Surgical treatment of aneurysms of the ascending aorta in the Marfan syndrome. Results of composite-graft repair in 50 patients. N Engl J Med (1986) 2.59
The genetics of hand malformations. Birth Defects Orig Artic Ser (1978) 2.55
The 3-M syndrome: a heritable low birthweight dwarfism. Birth Defects Orig Artic Ser (1975) 2.53
Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science (1968) 2.40
Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Proc Natl Acad Sci U S A (1975) 2.36
The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase. Proc Natl Acad Sci U S A (1972) 2.32
Obstetrical and gynecological complications in fragile X carriers: a multicenter study. Am J Med Genet (1994) 2.31
The transport of lysosomal enzymes. J Supramol Struct (1977) 2.22
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet (1997) 2.19
Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. Genomics (1989) 2.17
Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet (1998) 2.16
The association of waterborne chloroform with intrauterine growth retardation. Epidemiology (1992) 2.10
The genetic mucopolysaccharidoses. Medicine (Baltimore) (1965) 2.04
SUGAR NUCLEOTIDES IN THE INTERCONVERSION OF CARBOHYDRATES IN HIGHER PLANTS. Proc Natl Acad Sci U S A (1959) 2.03
Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain. Proc Natl Acad Sci U S A (1985) 2.03
Risks to the offspring of women treated with hydantoin anticonvulsants, with emphasis on the fetal hydantoin syndrome. J Pediatr (1976) 2.00
Direct demonstration of binding of a lysosomal enzyme, alpha-L-iduronidase, to receptors on cultured fibroblasts. Proc Natl Acad Sci U S A (1979) 1.97
Prenatal cocaine exposure and fetal vascular disruption. Pediatrics (1990) 1.97
The association of Waardenburg syndrome and Hirschsprung megacolon. Am J Med Genet (1979) 1.94
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program. Am J Hum Genet (1990) 1.94
George Otto Gey. (1899-1970). The HeLa cell and a reappraisal of its origin. Obstet Gynecol (1971) 1.93
Parental age effects on the occurrence of new mutations for the Marfan syndrome. Ann Hum Genet (1972) 1.92
Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature. Medicine (Baltimore) (1970) 1.89
Enzymic diagnosis of the genetic mucopolysaccharide storage disorders. Methods Enzymol (1978) 1.89
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci U S A (1973) 1.86
Aortic root replacement. Risk factor analysis of a seventeen-year experience with 270 patients. J Thorac Cardiovasc Surg (1995) 1.86
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase. Proc Natl Acad Sci U S A (1989) 1.86
Hypochondroplasia. Am J Dis Child (1971) 1.86
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell (1994) 1.85
Type II syndactyly. Am J Hum Genet (1968) 1.85
Family-oriented follow-up. J Chronic Dis (1969) 1.84
A nomenclature for constitutional disorders of bone. J Bone Joint Surg Am (1971) 1.84
Thrombocytopenia with absent radius (TAR). Medicine (Baltimore) (1969) 1.82
Genetic linkage confirmed between the locus for myotonic dystrophy and the ABH-secretion and Lutheran blood group loci. Am J Hum Genet (1972) 1.82
Morphologic study of the internalization of a lysosomal enzyme by the mannose 6-phosphate receptor in cultured Chinese hamster ovary cells. Proc Natl Acad Sci U S A (1981) 1.81
The fetal hydantoin syndrome. J Pediatr (1975) 1.80
Duty to re-contact. Genet Med (2001) 1.80
The ethnic distribution of disease in the United States. J Chronic Dis (1967) 1.79
Is there a mechanism for introducing acid hydrolases into liver lysosomes that is independent of mannose 6-phosphate recognition? Evidence from I-cell disease. Biochem Biophys Res Commun (1982) 1.79
Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Proc Natl Acad Sci U S A (1999) 1.79
Complement and C3-proactivator levels in children with protein-calorie malnutrition and effect of dietary treatment. Lancet (1973) 1.79
Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts. J Biol Chem (1984) 1.75
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. Am J Med Genet (1997) 1.74
Deletions of different segments of the long arm of chromosome 4. Am J Med Genet (1981) 1.72
A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia. J Pediatr (1977) 1.71
Suppression of metabolic accompaniments of phagocytosis by colchicine. Arthritis Rheum (1965) 1.70
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem (1980) 1.69
5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet (1996) 1.68
Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome. J Pediatr (1983) 1.68
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. Am J Dis Child (1969) 1.67
Corrective factors for inborn errors of mucopolysaccharide metabolism. Ann N Y Acad Sci (1971) 1.65
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet (2009) 1.64
Genetic aspects of clinical endocrinology. Recent Prog Horm Res (1968) 1.64
Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease. Proc Natl Acad Sci U S A (1982) 1.61
Formation of galactolipids by chloroplasts. Biochem Biophys Res Commun (1964) 1.61
Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues. Pediatrics (1986) 1.60
Menkes disease: a biochemical abnormality in cultured human fibroblasts. Proc Natl Acad Sci U S A (1976) 1.60
Magnetic resonance imaging of brain anomalies in fetal alcohol syndrome. Pediatrics (1997) 1.59
The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol (1967) 1.57
Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells. Protein Expr Purif (1994) 1.55
A study of cardiovascular risk in heterozygotes for homocystinuria. Am J Hum Genet (1981) 1.54
The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation. Proc Natl Acad Sci U S A (1969) 1.53
METABOLISM OF MYO-INOSITOL IN PLANTS: CONVERSION TO PECTIN, HEMICELLULOSE, D-XYLOSE, AND SUGAR ACIDS. Proc Natl Acad Sci U S A (1962) 1.53
Ellis-van Creveld syndrome and the Amish. Nat Genet (2000) 1.53
Mechanisms of defective delayed cutaneous hypersensitivity in children with protein-calorie malnutrition. Lancet (1973) 1.52
Holoprosencephaly in infants of diabetic mothers. J Pediatr (1983) 1.51
Oculodentodigital dysplasia. Four new reports and a literature review. Arch Ophthalmol (1979) 1.50
Assessment of reproductive disorders and birth defects in communities near hazardous chemical sites. I. Birth defects and developmental disorders. Reprod Toxicol (1997) 1.50
Autosomal recessive cerebellar hypoplasia. J Child Neurol (1989) 1.49