Published in Birth Defects Orig Artic Ser on January 01, 1986
Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J Clin Invest (1996) 1.24
Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. J Clin Invest (1997) 1.08
Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up. J Inherit Metab Dis (1999) 0.94
Bone marrow transplantation. Part I--Allogeneic. West J Med (1989) 0.88
Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant. J Inherit Metab Dis (2003) 0.88
Bone marrow transplant in a case of mucopolysaccharidosis I Scheie phenotype: skin ultrastructure before and after transplantation. Acta Neuropathol (1991) 0.79
Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy. J Clin Invest (1996) 0.78
Stereological and morphometric analysis of dermal fibroblasts before and after bone marrow transplantation in a case of mucopolysaccharidosis I Scheie phenotype. Acta Neuropathol (1993) 0.75
The role of cockroach allergy and exposure to cockroach allergen in causing morbidity among inner-city children with asthma. N Engl J Med (1997) 12.21
Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease. N Engl J Med (2001) 6.94
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science (1997) 6.10
Virus-associated hemophagocytic syndrome: a benign histiocytic proliferation distinct from malignant histiocytosis. Cancer (1979) 5.60
Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder. J Lab Clin Med (1969) 5.40
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science (1996) 4.22
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med (2001) 3.72
Wiskott-Aldrich syndrome. An immunologic deficiency disease involving the afferent limb of immunity. Am J Med (1968) 3.54
Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). Bone Marrow Transplant (2002) 3.24
A randomized clinical trial to reduce asthma morbidity among inner-city children: results of the National Cooperative Inner-City Asthma Study. J Pediatr (1999) 3.03
Schwannomatosis: a clinical and pathologic study. Neurology (1996) 2.82
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nat Genet (2001) 2.81
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet (1996) 2.67
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. Nat Genet (1995) 2.66
Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci U S A (1986) 2.51
Cytomegalovirus infection and HIV-1 disease progression in infants born to HIV-1-infected women. Pediatric Pulmonary and Cardiovascular Complications of Vertically Transmitted HIV Infection Study Group. N Engl J Med (1999) 2.51
Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter. Proc Natl Acad Sci U S A (1981) 2.50
Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med (1973) 2.35
CT imaging in adults with neurofibromatosis-1: frequent asymptomatic plexiform lesions. Neurology (1998) 2.32
Pulmonary function abnormalities in symptom-free children after bronchiolitis. Pediatrics (1977) 2.32
Relationship of indoor allergen exposure to skin test sensitivity in inner-city children with asthma. J Allergy Clin Immunol (1998) 2.31
An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med (1991) 2.27
Single versus multiple dose dactinomycin therapy of Wilms's tumor. A controlled co-operative study conducted by the Children's Cancer Study Group A (formerly Acute Leukemia Co-operative Chemotherapy Group A). N Engl J Med (1968) 2.25
Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone. Proc Natl Acad Sci U S A (1986) 2.25
An ultrastructural basis for the shape changes induced in platelets by chilling. Blood (1967) 2.20
Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas. Genes Chromosomes Cancer (1995) 2.20
Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood (1996) 2.19
Recession of the lateral recti. Early and late postoperative alignments. Arch Ophthalmol (1969) 2.18
A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet (2001) 2.13
The ultrastructural localization and release of platelet lipids. Blood (1966) 2.10
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet (2000) 2.08
Etiologic factors in accommodative esodeviation. Trans Am Ophthalmol Soc (1982) 2.06
Quality assurance in molecular genetic testing laboratories. JAMA (1999) 2.00
Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. Lancet (2000) 1.98
Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet (1997) 1.96
Successful bone-marrow transplantation for infantile malignant osteopetrosis. N Engl J Med (1980) 1.95
Design and methods of the National Cooperative Inner-City Asthma Study. Pediatr Pulmonol (1997) 1.95
Purification and properties of delta-aminolevulinate dehydrase from human erythrocytes. J Biol Chem (1979) 1.89
Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. J Biol Chem (1991) 1.89
Purification and properties of uroporphyrinogen I synthase from human erythrocytes. Identification of stable enzyme-substrate intermediates. J Biol Chem (1980) 1.87
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet (1992) 1.84
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet (1993) 1.83
The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med (1989) 1.79
Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region. Proc Natl Acad Sci U S A (1988) 1.79
Umbilical cord plasma 25-hydroxyvitamin D concentration and immune function at birth: the Urban Environment and Childhood Asthma study. Clin Exp Allergy (2011) 1.76
Psychosocial characteristics of inner-city children with asthma: a description of the NCICAS psychosocial protocol. National Cooperative Inner-City Asthma Study. Pediatr Pulmonol (1997) 1.74
Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med (2001) 1.73
Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII. Pediatr Res (1984) 1.67
Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet (1999) 1.62
The delta-aminolevulinate dehydratase polymorphism: higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymes. Environ Res (1991) 1.62
Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis (1995) 1.62
Prader-Willi syndrome and a bisatellited derivative of chromosome 15. Clin Genet (1980) 1.60
Successful treatment of painful crises of Fabry disease with low dose morphine. Pediatr Neurol (1995) 1.58
Results of the National Cooperative Inner-City Asthma Study (NCICAS) environmental intervention to reduce cockroach allergen exposure in inner-city homes. J Allergy Clin Immunol (1999) 1.57
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet (1990) 1.57
Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts. EMBO J (1989) 1.55
Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases. Exp Hematol (1999) 1.55
Adrenoleukodystrophy: phenotypic variability and implications for therapy. J Inherit Metab Dis (1992) 1.52
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene. Hum Mol Genet (1994) 1.52
Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features. Am J Pathol (1996) 1.52
Lead binding to delta-aminolevulinic acid dehydratase (ALAD) in human erythrocytes. Pharmacol Toxicol (1997) 1.50
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis (2009) 1.50
Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion. J Cell Biol (1992) 1.49
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease. J Biol Chem (1996) 1.49
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr (2000) 1.48
Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet (2000) 1.48
Acute and chronic effects of methotrexate on hepatic, pulmonary, and skeletal systems. Cancer (1976) 1.48
Short-term compliance with peak flow monitoring: results from a study of inner city children with asthma. Pediatr Pulmonol (1996) 1.48
Adrenoleukodystrophy: a scoring method for brain MR observations. AJNR Am J Neuroradiol (1994) 1.47
Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease). Am J Hum Genet (1975) 1.46
Male donor-derived cells in the brains of female sex-mismatched bone marrow transplant recipients: a Y-chromosome specific in situ hybridization study. J Neuropathol Exp Neurol (1993) 1.46
Overwhelming postplenectomy infection. Surg Clin North Am (1979) 1.45
Local protective effects of nerve growth factor-secreting fibroblasts against excitotoxic lesions in the rat striatum. J Neurosurg (1993) 1.44
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. J Clin Invest (1989) 1.44
A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group. N Engl J Med (1992) 1.43
Prenatal genetic carrier testing using triple disease screening. JAMA (1997) 1.43
Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation. N Engl J Med (1984) 1.43
Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4. Genomics (1991) 1.43
Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms. J Biol Chem (1981) 1.42
Enzyme replacement in Fabry's disease, an inborn error of metabolism. Science (1970) 1.41
Three years of experience with random urinary homovanillic and vanillylmandelic acid levels in the diagnosis of neuroblastoma. Pediatrics (1987) 1.40
Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. Am J Med Genet (1999) 1.40
A penicillin-resistant pneumococcus. J Pediatr (1978) 1.40
Increasing tamoxifen dose in breast cancer patients based on CYP2D6 genotypes and endoxifen levels: effect on active metabolite isomers and the antiestrogenic activity score. Clin Pharmacol Ther (2011) 1.39
Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting. Am J Hum Genet (1987) 1.38
Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials. Neurology (2006) 1.37
Nucleotide sequence of the human alpha-galactosidase A gene. Nucleic Acids Res (1989) 1.37
Alpha-L-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I. Pediatr Res (1979) 1.36
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol Med (1997) 1.36
Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease. Genomics (1992) 1.35
Effect of the delta-aminolevulinate dehydratase polymorphism on the accumulation of lead in bone and blood in lead smelter workers. Environ Res (1998) 1.35
Sodium cromoglycate-induced changes in the dose-response curve of inhaled methacholine and histamine in asthmatic children. Am Rev Respir Dis (1979) 1.35
Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn (1992) 1.35
Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning. Am J Hum Genet (1991) 1.35