Published in Am J Med Genet on January 01, 1977
Evolution of liver transplantation. Hepatology (1982) 19.54
Cell migration and chimerism after whole-organ transplantation: the basis of graft acceptance. Hepatology (1993) 8.76
Fifteen years of clinical liver transplantation. Gastroenterology (1979) 7.19
Liver transplantation (1). N Engl J Med (1989) 4.53
Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease. N Engl J Med (1993) 3.36
Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation. Pediatrics (1986) 2.04
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inherit Metab Dis (2007) 1.94
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Types A and B Niemann-Pick disease. Mol Genet Metab (2016) 0.77
The correction of Hunter fibroblasts by exogenous iduronate sulfate sulfatase: biochemical and ultrastructural studies. Am J Hum Genet (1981) 0.77
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Treatment of Niemann-Pick disease type B by allogeneic bone marrow transplantation. Br Med J (Clin Res Ed) (1987) 0.75
Bone histomorphometry: standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee. J Bone Miner Res (1987) 24.27
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Cyclophosphamide and whole organ transplantation in human beings. Surg Gynecol Obstet (1971) 5.24
Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets. Endocrinology (2001) 2.87
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc Natl Acad Sci U S A (1976) 2.59
Insulin resistance syndrome in a representative sample of children and adolescents from Quebec, Canada. Int J Obes Relat Metab Disord (2004) 2.26
Deficient mineralization of intramembranous bone in vitamin D-24-hydroxylase-ablated mice is due to elevated 1,25-dihydroxyvitamin D and not to the absence of 24,25-dihydroxyvitamin D. Endocrinology (2000) 2.08
Calcineurin inhibitor minimization in the Symphony study: observational results 3 years after transplantation. Am J Transplant (2009) 1.88
Recovery from "hepatorenal syndrome" after orthotopic liver transplantation. N Engl J Med (1973) 1.85
Osteoblasts isolated from mouse calvaria initiate matrix mineralization in culture. J Cell Biol (1983) 1.80
Liver allograft. Its use in chronic active hepatitis with macronodular cirrhosis, hepatitis B surface antigen. Arch Surg (1979) 1.80
Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. N Engl J Med (1995) 1.78
Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone (2002) 1.77
Alopecia, ascites, and incomplete regeneration after 85 to 90 per cent liver resection. Am J Surg (1975) 1.72
Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians. Am J Hum Genet (1996) 1.68
Perinatal metabolism of vitamin D. Am J Clin Nutr (2000) 1.67
Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. J Clin Endocrinol Metab (2000) 1.65
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Hum Mol Genet (1997) 1.64
Mepe, the gene encoding a tumor-secreted protein in oncogenic hypophosphatemic osteomalacia, is expressed in bone. Genomics (2001) 1.60
The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus. J Bone Miner Res (1997) 1.53
Static and dynamic bone histomorphometry in children with osteogenesis imperfecta. Bone (2000) 1.46
Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. N Engl J Med (1972) 1.46
Renal handling of phosphate in vivo and in vitro by the X-linked hypophosphatemic male mouse: evidence for a defect in the brush border membrane. Kidney Int (1978) 1.45
cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. Genomics (1996) 1.41
Bone response to phosphate salts, ergocalciferol, and calcitriol in hypophosphatemic vitamin D-resistant rickets. N Engl J Med (1980) 1.37
[Tay-Sachs disease: prenatal detection and diagnosis]. Union Med Can (1972) 1.36
Ex vivo perfusion, arteriography, and autotransplantation procedures for kidney salvage. Surg Gynecol Obstet (1973) 1.31
Collagen changes in the human uterine cervix at parturition. Am J Obstet Gynecol (1978) 1.30
Relation between hypomineralized periosteocytic lesions and bone mineralization in vitamin D-resistant rickets. Calcif Tissue Int (1983) 1.30
Vitamin D supplementation during pregnancy: effect on neonatal calcium homeostasis. J Pediatr (1986) 1.29
Histomorphometric analysis of sclerotic bone metastases from prostatic carcinoma special reference to osteomalacia. Cancer (1983) 1.23
Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. J Clin Endocrinol Metab (2010) 1.22
Osteogenesis imperfecta--clinical and molecular diversity. Eur Cell Mater (2003) 1.20
The mineralization density of iliac crest bone from children with osteogenesis imperfecta. Calcif Tissue Int (1999) 1.19
Estrogen and progesterone receptor determination in the papillary cystic neoplasm of the pancreas. With immunohistochemical and ultrastructural observations. Cancer (1987) 1.17
X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate, and bone mineralization. J Clin Endocrinol Metab (1981) 1.15
Structural and cellular changes during bone growth in healthy children. Bone (2000) 1.11
Engineering bone regeneration with bioabsorbable scaffolds with novel microarchitecture. Tissue Eng (1999) 1.07
Acro-renal-mandibular syndrome. Am J Med Genet (1980) 1.07
Percutaneous removal of a biliary stent after acute spontaneous duodenal perforation. Cardiovasc Intervent Radiol (1995) 1.05
Lumbar bone mineral content measured by dual energy X-ray absorptiometry in newborns and infants. Acta Paediatr (1992) 1.05
The diagnosis and treatment of hyperparathyroidism after renal homotransplantation. Surg Gynecol Obstet (1973) 1.04
Hypoparathyroidism during pregnancy: treatment with calcitriol. J Clin Endocrinol Metab (1981) 1.03
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. Hum Mutat (2001) 1.02
Renal cell carcinoma in kidney allografts: a case series from a single center. Am J Transplant (2005) 1.02
Temporal and spatial expression of bone morphogenetic protein-2, -4, and -7 during distraction osteogenesis in rabbits. Bone (2000) 1.00
Linkage mapping by simultaneous screening of multiple polymorphic loci using Alu oligonucleotide-directed PCR. Proc Natl Acad Sci U S A (1992) 0.99
Liver angiomyolipoma: classic and unusual presentations. Abdom Imaging (1995) 0.99
CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII. Bone (2009) 0.99
The bone formation defect in idiopathic juvenile osteoporosis is surface-specific. Bone (2002) 0.99
Osteogenesis imperfecta at the beginning of bone and joint decade. Croat Med J (2001) 0.98
Bone-specific expression of the alpha chain of the nascent polypeptide-associated complex, a coactivator potentiating c-Jun-mediated transcription. Mol Cell Biol (1998) 0.98
X-linked hypophosphataemic rickets: Inadequate therapeutic response to 1,25-dihydroxycholecalciferol. Lancet (1973) 0.98
Serum 1,25-dihydroxyvitamin D concentration in hypophosphatemic vitamin D-resistant rickets. Calcif Tissue Int (1981) 0.96
In vitro metabolism of 25-hydroxycholecalciferol by isolated cells from human decidua. J Clin Endocrinol Metab (1985) 0.96
Control of vitamin D metabolism in preterm infants: feto-maternal relationships. Arch Dis Child (1982) 0.96
Effect of dietary phosphate deprivation and supplementation of recipient mice on bone formation by transplanted cells from normal and X-linked hypophosphatemic mice. J Bone Miner Res (1992) 0.96
Deficient bone formation in idiopathic juvenile osteoporosis: a histomorphometric study of cancellous iliac bone. J Bone Miner Res (2000) 0.96
Normative data on mineralization density distribution in iliac bone biopsies of children, adolescents and young adults. Bone (2009) 0.96
Dual energy x-ray absorptiometry measurement of bone mineral content in newborns: validation of the technique. Pediatr Res (1992) 0.95
Resolution of severe, adolescent-onset hypophosphatemic rickets following resection of an FGF-23-producing tumour of the distal ulna. Bone (2004) 0.94
False aneurysm of the ascending aorta presenting as an acute myocardial infarction: a late complication of aortocoronary bypass. Chest (1981) 0.94
Vitamin D dependency: replacement therapy with calcitriol? J Pediatr (1981) 0.93
Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis. Am J Hum Genet (1990) 0.93
Variations in arterial blood pressure after kidney transplantation. Relation to renal function, plasma renin activity, and the dose of prednisone. Circulation (1973) 0.93
Inhibition of in vitro immunoglobulin production by rapamycin. Transplantation (1992) 0.92
Mineralization in osteoblast cultures: a light and electron microscopic study. Bone (1988) 0.92
Expression of the 1,25-dihydroxyvitamin D3-24-hydroxylase gene in rat intestine: response to calcium, vitamin D3 and calcitriol administration in vivo. J Bone Miner Res (1995) 0.91
Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14. J Bone Miner Res (1992) 0.91
Brief clinical report: renal hypodysplasia and unilateral ovarian agenesis in the penta-X syndrome. Am J Med Genet (1980) 0.91
Defective bone formation by Hyp mouse bone cells transplanted into normal mice: evidence in favor of an intrinsic osteoblast defect. J Bone Miner Res (1992) 0.91
Bone response to phosphate and vitamin D metabolites in the hypophosphatemic male mouse. Calcif Tissue Int (1982) 0.91
Rapamycin, a potent immunosuppressive drug for vascularized heart, kidney, and small bowel transplantation in the rat. Transplantation (1991) 0.90
Human collagen 'fingerprints' produced by clostridopeptidase A digestion and high-pressure liquid chromatography. Biochem J (1977) 0.89
Separation of collagen cyanogen bromide-derived peptides by reversed-phase high-performance liquid chromatography. Biochem J (1980) 0.88
XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation. Am J Obstet Gynecol (1977) 0.88
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia. J Med Genet (2003) 0.88
Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP. Am J Med Genet A (2011) 0.87
Defective bone formation by transplanted Hyp mouse bone cells into normal mice. Endocrinology (1988) 0.87
24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study. J Clin Endocrinol Metab (1996) 0.87
Plasma homocysteine concentration in children with chronic renal failure. Pediatr Nephrol (2001) 0.86
Principles and results of corrective lower limb osteotomies for patients with vitamin D-resistant hypophosphatemic rickets. Clin Orthop Relat Res (1988) 0.86
Response to crystalline 1alpha-hydroxyvitamin D3 in vitamin D dependency. Pediatr Res (1975) 0.86
Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. Bone (2002) 0.86
The microscopic structure of bone in normal children and patients with osteogenesis imperfecta: a survey using backscattered electron imaging. Calcif Tissue Int (1999) 0.86
A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers. Clin Genet (2014) 0.86
Tacrolimus (FK506) and sirolimus (rapamycin) in combination are not antagonistic but produce extended graft survival in cardiac transplantation in the rat. Transplantation (1997) 0.86
Effects of rapamycin on human HLA-unrestricted cell killing. Clin Immunol Immunopathol (1992) 0.86
Short- and long-term outcome of patients with pseudo-vitamin D deficiency rickets treated with calcitriol. J Clin Endocrinol Metab (2010) 0.86