Published in Am J Hum Genet on March 01, 1989
Liver transplantation for type IV glycogen storage disease. N Engl J Med (1991) 2.31
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest (1996) 1.24
Liver transplantation for type I and type IV glycogen storage disease. Eur J Pediatr (1993) 0.89
Neuromuscular forms of glycogen branching enzyme deficiency. Acta Myol (2007) 0.80
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. JIMD Rep (2013) 0.75
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. J Inherit Metab Dis (2010) 0.75
A rapid filter paper assay for UDPglucose-glycogen glucosyltransferase, including an improved biosynthesis of UDP-14C-glucose. Anal Biochem (1968) 6.22
Structure of glycogens and amylopectins. III. Normal and abnormal human glycogen. J Biol Chem (1952) 2.37
Familial cirrhosis of the liver with storage of abnormal glycogen. Lab Invest (1956) 2.20
Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis. Proc Natl Acad Sci U S A (1966) 1.72
Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease. Biochem Biophys Res Commun (1983) 1.00
Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes. J Inherit Metab Dis (1988) 0.86
Type IV glycogen storage disease: branching enzyme deficiency in skin fibroblasts and possible heterozygote detection. J Pediatr (1971) 0.85
Studies on leukocyte bracher enzyme activity in a family with type IV glycogenosis. J Pediatr (1969) 0.85
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet (2009) 3.89
OBSERVATIONS ON THE FUNCTION OF PYRIDOXAL-5-PHOSPHATE IN PHOSPHORYLASE. Proc Natl Acad Sci U S A (1958) 3.07
Functional organelles in prokaryotes: polyhedral inclusions (carboxysomes) of Thiobacillus neapolitanus. Science (1973) 2.39
Mitochondrial transfer ribonucleic acids. Proc Natl Acad Sci U S A (1967) 2.02
Mitochondrial-specific aminoacyl-RNA synthetases. Proc Natl Acad Sci U S A (1967) 1.90
Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis. Proc Natl Acad Sci U S A (1966) 1.72
THE ENZYMATIC SYNTHESIS IN VITRO OF HYALURONIC ACID CHAINS. Proc Natl Acad Sci U S A (1955) 1.54
Studies of lysosomal alpha-glucosidase. I. Purification and properties of the rat liver enzyme. Biochemistry (1970) 1.49
Penetrating and blunt neck trauma: 10-year review of a Canadian experience. Can J Surg (1997) 1.46
Alteration of thiol and superoxide dismutase status in rheumatoid arthritis treated with sulphasalazine. Br J Rheumatol (1987) 1.45
Airway control during percutaneous tracheotomy. Laryngoscope (1994) 1.39
Isolation of Intact Chloroplasts from Euglena gracilis by Zonal Centrifugation. Plant Physiol (1971) 1.38
The clinicopathology of retinoblastoma. Am J Ophthalmol (1966) 1.37
The subcellular distribution of enzymes in type II glycogenosis and the occurrence of an oligo-alpha-1,4-glucan glucohydrolase in human tissues. Biochim Biophys Acta (1965) 1.29
Metal biomonitoring with mosses: procedures for correcting for soil contamination. Environ Pollut (1995) 1.26
Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease. Biochemistry (1970) 1.22
Determination of gold in blood fractions by atomic-absorption spectrometry using carbon rod and carbon furnace atomisation. Analyst (1976) 1.21
Plasma zinc and its relationship to clinical symptoms and drug treatment in rheumatoid arthritis. Ann Rheum Dis (1980) 1.18
Studies of lysosomal alpha-glucosidase. II. Kinetics of action of the rat liver enzyme. Biochemistry (1970) 1.15
ACTION OF AMYLO-1,6-GLUCOSIDASE ON LOW MOLECULAR WEIGHT SUBSTRATES AND THE ASSAY OF THIS ENZYME IN GLYCOGEN STORAGE DISEASE. Proc Natl Acad Sci U S A (1962) 1.14
Preparation and properties of the glycogen-debranching enzyme from rabbit liver. Biochim Biophys Acta (1972) 1.13
Antiinflammatory effects of some copper complexes. J Med Chem (1980) 1.11
Comparison of computer-assisted instruction and seminar instruction to acquire psychomotor and cognitive knowledge of epistaxis management. Otolaryngol Head Neck Surg (1999) 1.11
Ring chromosome X in a child with manifestations of Kabuki syndrome. Am J Med Genet (1997) 1.10
Analytical differential centrifugation: an analysis of the sedimentation properties of synaptosomes, mitochondria and lysosomes from rat brain homogenates. Arch Biochem Biophys (1970) 1.08
Improving the use of lichens as biomonitors of atmospheric metal pollution. Sci Total Environ (1999) 1.07
Carbon dioxide laser laparoscopy: initial experience in experimental animals and humans. Obstet Gynecol (1982) 1.06
The free flap and plate in oromandibular reconstruction: long-term review and indications. Plast Reconstr Surg (1995) 1.06
Large Scale Isolation and Purification of Eyespot Granules from Euglena gracilis var. bacillaris. Plant Physiol (1972) 1.06
Micro-scale photofluorometric determination of "free erythrocyte pophyrin" (protoporphyrin IX). Clin Chem (1975) 1.05
Chromatographic differences between the cytoplasmic and mitochondrial tRNAs of Neurospora crassa. Biochem Biophys Res Commun (1968) 1.04
Immunohistochemical analysis of the proliferative capacity of duct and acinar cells during ligation-induced atrophy and subsequent regeneration of rat parotid gland. J Oral Pathol Med (1993) 1.02
Altered thiol status in patients with rheumatoid arthritis. Rheumatol Int (1982) 1.01
Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease. Biochem Biophys Res Commun (1983) 1.00
Reconstructive options in the treatment of osteoradionecrosis of the craniomaxillofacial skeleton. Br J Plast Surg (2003) 0.99
Informed consent in head and neck surgery: how much do patients actually remember? J Otolaryngol (1997) 0.98
The molecular heterogeneity of purified human liver lysosomal alpha-glucosidase (acid alpha-glucosidase). Arch Biochem Biophys (1978) 0.93
Myoepithelial cells actively proliferate during atrophy of rat parotid gland. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (1996) 0.93
Serum copper and its relationship to clinical symptoms in rheumatoid arthritis. Ann Rheum Dis (1979) 0.92
Thoracoscopic management of chylous fistulae. Am J Otolaryngol (1998) 0.92
Genital injury and implied consent to alleged rape. J Reprod Med (1986) 0.92
Effect of changes in the outer structure of glycogen on the debranching activity of the transferase-glucosidase system. Arch Biochem Biophys (1966) 0.91
Diagnosis and management of nasal fractures. Int J Trauma Nurs (1997) 0.91
The free iliac crest and fibula flaps in vascularized oromandibular reconstruction: comparison and long-term evaluation. Head Neck (1999) 0.91
Needs assessment for an undergraduate otolaryngology curriculum. Otolaryngol Head Neck Surg (1999) 0.90
A relationship between thiols and the superoxide ion. FEBS Lett (1981) 0.89
Oromandibular reconstruction with the fibular free flap. Analysis of 50 consecutive flaps. Arch Otolaryngol Head Neck Surg (1997) 0.89
Value of nasal radiographs in nasal trauma management. J Otolaryngol (1996) 0.88
Classification of mandibular defects. Plast Reconstr Surg (1993) 0.88
The geography of ocular Toxocara canis. Ann Ophthalmol (1974) 0.87
The experimental production of glycogen storage in cultured human fibroblasts. Biochem Biophys Res Commun (1972) 0.87
Pharyngocutaneous fistulae in laryngectomy patients: the Toronto Hospital experience. J Otolaryngol (1998) 0.86
Separation of microchonria, peroxisomes and lysosomes by zonal centrifugation in a Ficoll gradient. Biochim Biophys Acta (1968) 0.86
Early and late changes in sulphydryl group and copper protein concentrations and activities during drug treatment with aurothiomalate and auranofin. Ann Rheum Dis (1986) 0.85
Comparison of gold levels and distribution in guinea pig serum. Arthritis Rheum (1978) 0.84
The urinary excretion of vanilmandelic acid (VMA) and homovanillic acid (hva) in children with retinoblastoma. Am J Ophthalmol (1966) 0.84
Micromethod for zinc protoporphyrin in erythrocytes: including new data on the absorptivity of zinc protoporphyrin and new observations in neonates and sickle cell disease. Biochem Med (1979) 0.83
Changes in glutathione in intact erythrocytes during incubation with penicillamine as detected by 1H spin-echo NMR spectroscopy. Biochim Biophys Acta (1986) 0.83
Hyperbaric oxygen therapy and mandibular osteoradionecrosis: a retrospective study and analysis of treatment outcomes. J Can Dent Assoc (2001) 0.83
Rapid conversion to high xanthine oxidase activity in viable Kupffer cells during hypoxia. J Clin Invest (1994) 0.83
Laryngeal chondrosarcoma: gross pathological, histologic and electron microscopic characteristics. Can J Surg (1985) 0.83
Serum copper and erythrocyte superoxide dismutase in rheumatoid arthritis. Ann Rheum Dis (1982) 0.83
The apparent activity in vivo of the lysosomal pathway of glycogen catabolism in cultured human skin fibroblasts from patients with type III glycogen storage disease. J Biol Chem (1978) 0.82
Determination of copper in plasma ultrafiltrate by atomic-absorption spectrometry using carbon furnace atomisation. Analyst (1978) 0.82
Determination of gold in separate protein fractions of blood serum by carbon furnace atomic-absorption spectrometry. Analyst (1977) 0.82
Cadmium Tolerance in a Metal-contaminated Population of the Grassland Moss Rhytidiadelphus squarrosus. Ann Bot (1995) 0.81
Blindness: a potential complication of bilateral neck dissection. J Laryngol Otol (1990) 0.81
Iodine absorption after topical administration. West J Med (1987) 0.81
Gold levels produced by treatment with auranofin and sodium aurothiomalate. Ann Rheum Dis (1983) 0.81
Supraomohyoid neck dissection. Is it diagnostic or therapeutic? Head Neck (1999) 0.81
Complications associated with rigid fixation of mandibulotomies. J Otolaryngol (1994) 0.80
A simple radioimmunoassay for 3',5', cyclic adenosine monophosphate. Anal Biochem (1975) 0.80
An objective analysis of the impact of lateral rhinotomy and medial maxillectomy on nasal airway function. Laryngoscope (1998) 0.80
Eosinophilic granuloma of the mandibular condyle: report of three cases and review of the literature. J Oral Maxillofac Surg (1997) 0.79
Prognostic indicators in carcinoma of the nasal vestibule. Clin Otolaryngol (2007) 0.79
Prolonged life and improved quality for stored skin grafts. Plast Reconstr Surg (1984) 0.78
Estimates of histocompatibility differences between inbred mouse strains. Immunogenetics (1978) 0.78
Cigarette smoking and the clinical outcome of gold therapy in rheumatoid arthritis. J Rheumatol (1984) 0.78
Mycotic sinusitis: a management protocol. J Otolaryngol (1989) 0.78
Action of gold salts in some inflammatory and immunological models. Agents Actions (1980) 0.78
Urinary tract symptoms: microbiologic evaluation in rural family practice. J Am Board Fam Pract (1988) 0.77
Total serum copper and ceruloplasmin levels following administration of copper aspirinate to rats and guinea-pigs. Agents Actions (1980) 0.77
A radioimmunoassay for plasma aldosterone without chromatography. J Clin Endocrinol Metab (1973) 0.77
Pharyngeal rhabdomyoma: a clinico-pathological study. J Otolaryngol (1992) 0.77
Two transcripts, differing at their 3' ends, are produced from the Candida albicans SEC14 gene. Microbiology (1997) 0.77
Determination of thiol concentrations in haemolysate by resonance Raman spectrometry. Analyst (1982) 0.77
Tobacco, alcohol, and oral cancer: the patient's perspective. J Otolaryngol (1996) 0.77
The alleles of theH-13 locus. Immunogenetics (1978) 0.77
Glossopharyngeal neuralgia and syncope secondary to neck malignancy. J Otolaryngol (1993) 0.76
The effect of gold salts in kaolin-induced paw oedema and adjuvant-induced arthritis in the rat [proceedings]. Br J Pharmacol (1978) 0.76
Maximum hang times for i.v. fat emulsions. Am J Hosp Pharm (1987) 0.76
A comparison of tissue gold levels in guinea-pigs after treatment with myocrisin injected intramuscularly and triethylphosphine gold chloride and myocrisin administered orally. Agents Actions (1978) 0.76
Role of hyperbaric oxygen therapy in the management of mandibular osteoradionecrosis. Laryngoscope (1993) 0.76
Resonance Raman spectroscopy of hemoglobin in intact cells: a probe of oxygen uptake by erythrocytes in rheumatoid arthritis. J Inorg Biochem (1988) 0.76
A retrospective comparison of the morbidity and cost of different reconstructive strategies in oral and oropharyngeal carcinoma. Laryngoscope (1999) 0.75
Bazex syndrome. Otolaryngol Head Neck Surg (1992) 0.75
Facilitation of percutaneous dilational tracheostomy by use of a perforated endotracheal tube exchanger. Chest (1996) 0.75
A patient- and observer-rated analysis of the impact of lateral rhinotomy on facial aesthetics. Arch Facial Plast Surg (2001) 0.75
Serum copper levels in rheumatoid arthritis. Ann Rheum Dis (1978) 0.75