Published in J Pediatr Gastroenterol Nutr on January 01, 1989
Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed. Environ Health Perspect (2003) 1.15
Accelerated spirometric decline in New York City firefighters with α₁-antitrypsin deficiency. Chest (2010) 0.99
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Genet (1983) 2.53
Further comments on the lissencephaly syndromes. Am J Med Genet (1985) 2.42
Transcutaneous bilirubin measurement: a multicenter evaluation of a new device. Pediatrics (2001) 1.70
Noninvasive measurement of total serum bilirubin in a multiracial predischarge newborn population to assess the risk of severe hyperbilirubinemia. Pediatrics (2000) 1.67
The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet (1981) 1.52
Physiologic jaundice: the enterohepatic circulation of bilirubin. N Engl J Med (1971) 1.51
CNS anomalies and the midline as a "developmental field". Am J Med Genet (1982) 1.43
Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac. Am J Med Genet (1985) 1.40
Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy. N Engl J Med (1981) 1.38
Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family. Am J Med Genet (1982) 1.27
Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr (1984) 1.26
Comparison of effectiveness of pancreatic enzyme preparations in cystic fibrosis. Am J Dis Child (1982) 1.22
Familial bilateral renal agenesis and hereditary renal adysplasia. Z Kinderheilkd (1973) 1.22
beta-Glucuronidase and hyperbilirubinaemia in breast-fed and formula-fed babies. Lancet (1986) 1.19
Mycoplasma infection in the immunosuppressed leukemic patient. Arch Pathol Lab Med (1980) 1.19
Trisomy C in an infant with polycystic kidneys and other malformations. J Pediatr (1970) 1.15
Familial nonhemolytic jaundice with late onset of neurological damage. Pediatrics (1968) 1.13
Studies of malformation syndromes of man XXXXI B: nosologic studies in the Hanhart and the Möbius syndrome. Eur J Pediatr (1976) 1.12
The MIller-Dieker syndrome. Pediatrics (1980) 1.11
Total lymphatic irradiation and bone marrow in human heart transplantation. Ann Thorac Surg (1984) 1.11
Angiosarcoma of the spleen: a report of two cases and review of the literature. Arch Pathol Lab Med (1979) 1.10
Elevated fetal hemoglobin levels in sudden infant death syndrome. N Engl J Med (1987) 1.10
Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology. Am J Med Genet (1984) 1.09
Gilbert syndrome accelerates development of neonatal jaundice. J Pediatr (1998) 1.06
Multiple primary melanoma following administration of levodopa. Arch Pathol (1972) 1.06
Geleophysic dwarfism--a "focal" mucopolysaccharidosis? Lancet (1971) 1.06
Influence of binding on the toxicity of bilirubin. Ann N Y Acad Sci (1973) 1.03
Deep Entomophthora phycomycotic infection reported for the first time in the United States. Chest (1972) 1.03
Mortality risk of exchange transfusion. Pediatrics (1968) 1.03
Hemin: levels in experimental subarachnoid hematoma and effects on dissociated vascular smooth-muscle cells. J Neurosurg (1993) 1.02
Hemorrhagic renal necrosis in infancy: relationship to radiopaque compounds. J Pediatr (1970) 1.02
Bilirubin nephropathy in the Gunn strain of rat. Am J Physiol (1967) 1.02
Reye syndrome. Light and electron microscopic studies. Arch Pathol (1973) 1.01
The pathologic anatomy of the G-syndrome. Z Kinderheilkd (1972) 1.01
Studies in kernicterus. 3. The saturation of serum proteins with bilirubin during neonatal life and its relationship to brain damage at five years. J Pediatr (1970) 1.00
The pathology of some malformations and hereditary diseases of the respiratory tract. Birth Defects Orig Artic Ser (1976) 0.99
Incidental neuroblastoma in infants. Am J Clin Pathol (1969) 0.99
Inflammatory pseudo-tumours of the abdomen: plasma cell granulomas. J Clin Pathol (1973) 0.99
"Physiologic" hyperbilirubinemia in the neonatal period. N Engl J Med (1967) 0.98
Mesenteric cyst-ovarian implant syndrome. Arch Pathol Lab Med (1987) 0.98
Angiosarcoma of the liver and spleen in an infant. Pediatr Pathol (1985) 0.97
Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA). Clin Neuropathol (1990) 0.96
Histopathological identification of Entomophthora phycomycosis. Deep mycotic infection in an infant. Arch Pathol (1970) 0.96
I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases. Z Kinderheilkd (1973) 0.96
Geleophysic dysplasia. Am J Med Genet (1984) 0.95
Acute leukemia presenting as jaundice with acute liver failure. Clin Pediatr (Phila) (1973) 0.94
The hydrolethalus syndrome. Birth Defects Orig Artic Ser (1987) 0.93
Verotoxic Escherichia coli in human disease. J Pediatr Gastroenterol Nutr (1991) 0.92
Sea-blue histiocyte disease in siblings. Lancet (1970) 0.92
Studies in kernicterus. II. The determination of the saturation of serum albumin with bilirubin. J Pediatr (1969) 0.92
Elevated serum 1,25-dihydroxyvitamin D concentrations in the hypercalcemia of sarcoidosis: correction by glucocorticoid therapy. J Pediatr (1981) 0.92
Familial agnathia-holoprosencephaly. Am J Med Genet (1983) 0.92
The hypoplastic right heart complex. Clinical, hemodynamic, pathologic and surgical considerations. Am J Cardiol (1969) 0.91
Thymoma, plasma cell myeloma, red cell aplasia and malabsorption syndrome. Am J Med (1968) 0.91
Narrow trachea in mucopolysaccharidoses. Pediatr Radiol (1985) 0.90
The Johanson-Blizzard syndrome: case report and autopsy findings. Am J Med Genet (1979) 0.89
Gangrene of an extremity in the newborn. Pediatrics (1970) 0.89
Renal-nonresponsive, bone-responsive pseudohypoparathyroidism. A case with normal vitamin D metabolite levels and clinical features of rickets. Am J Dis Child (1984) 0.89
Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases. Eur J Pediatr (1976) 0.88
The influence of bicarbonate administration on blood pH in a "closed system": clinical implications. J Pediatr (1972) 0.88
Immunohistochemical studies of rhabdomyosarcoma. Arch Pathol Lab Med (1986) 0.88
Burkitt's lymphoma: the role of radiotherapy. Radiology (1972) 0.87
The "bronze" baby syndrome: a complication of phototherapy. J Pediatr (1972) 0.86
Idiopathic hydrops fetalis report of 4 patients including 2 affected sibs. Am J Med Genet (1981) 0.86
The evaluation of infants with the Zellweger (cerebro-hepato-renal) syndrome. Clin Genet (1975) 0.86
Neonatal intracranial choriocarcinoma. Arch Pathol Lab Med (1990) 0.86
Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies. Am J Med Genet (1984) 0.86
The G syndrome--additional observations. Am J Med Genet (1980) 0.86
Developmental and other pathologic changes in syndromes caused by chromosome abnormalities. Perspect Pediatr Pathol (1982) 0.86
The effect of bilirubin on the function of hamster small intestine. Pediatr Res (1981) 0.86
Pathological findings in 5,10-methylene tetrahydrofolate reductase deficiency. Birth Defects Orig Artic Ser (1987) 0.86
Bilirubin in the liver and kidney in jaundiced rats. Am J Dis Child (1966) 0.86
Malignant schwannoma: a light microscopic and ultrastructural study. Cancer (1980) 0.86
Granulomatous appendicitis. Dis Colon Rectum (1981) 0.86
Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease. Am J Med Genet (1979) 0.86
Lymphocytic reaction around primary and metastatic melanomas. South Med J (1970) 0.85
Aortic aneurysm associated with cardiac defects in theophyline stimulated chick embryos. Teratology (1978) 0.85
Obstruction of superior vena cava and pulmonary artery by malignant thymoma. Hemodynamic and angiographic observations of a case. Dis Chest (1967) 0.85
Cutis marmorata telangiectatica congenita. J Cutan Pathol (1974) 0.85
Leigh's necrotizing encephalopathy with pyruvate carboxylase deficiency. Arch Pathol Lab Med (1983) 0.85
Effect on the offspring of repeated caffeine administration to pregnant rats. J Reprod Fertil (1973) 0.84
Experimentally induced cardiovascular malformations in the chick embryo. Part II. Teratogenic effect of Tedral (theophylline, ephedrine, and phenobarbital) on cardiac development in chick embryos. Birth Defects Orig Artic Ser (1987) 0.84
The effects of methylxanthines on catecholamine-stimulated and normal chick embryos. Teratology (1977) 0.84
Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome). Review of a genetic "acro-osteolysis" syndrome. Z Kinderheilkd (1973) 0.84
Niemann-Pick disease type C. Pathological, histochemical, ultrastructural and biochemical studies. Eur J Pediatr (1981) 0.84
Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family. Am J Med Genet (1988) 0.83
Arthrodentoosteodysplasia: a genetic "acroosteolysis" syndrome. Birth Defects Orig Artic Ser (1974) 0.83
The rare problem of late recurrence in neuroblastoma. Cancer (1976) 0.83
High-performance liquid chromatographic analysis of bile pigments as their native tetrapyrroles and as their dipyrrolic azosulfanilate derivatives. J Chromatogr (1990) 0.83
Acrofacial dysplasia resembling geleophysic dysplasia. Am J Med Genet (1984) 0.83
Cardiovascular teratogenicity of 2, 3, 7, 8-tetrachlorodibenzo-p-dioxin in the chick embryo. Toxicol Appl Pharmacol (1981) 0.83
Secondary oxalosis as a complication of parenteral alimentation in acute renal failure. Am J Nephrol (1983) 0.82
Esophageal histoplasmosis in a child with immunodeficiency with hyper-IgM. AJR Am J Roentgenol (1991) 0.82
Carnitine deficiency. Pathology (1985) 0.82
A fifty-year-old man with skin pigmentation, arthritis, chronic renal failure and methemoglobinemia. Am J Med Genet (1983) 0.82
Use of the hand refractometer in determining total serum proteins of infants and children. J Pediatr (1967) 0.82
Hypocalcemia associated with phototherapy in newborn rats: light source dependence. Photochem Photobiol (1983) 0.82
The photodynamic action of bilirubin on erythrocytes. J Pediatr (1972) 0.82
Torsion and constriction of the umbilical cord. A cause of fetal death. Arch Pathol (1974) 0.82
Upper cervical cord compression as cause of death in osteogenesis imperfecta type II. J Pediatr (1986) 0.82