Published in Clin Chim Acta on June 30, 1987
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Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). Hum Mol Genet (1997) 0.96
Serological analysis of canine distemper virus using an immunocapture ELISA. J Vet Med Sci (1996) 0.96
Pyridoxal-5'-phosphate determination by a sensitive micromethod in human blood, urine and tissues; its relation to cystathioninuria in neuroblastoma and biliary atresia. Clin Chim Acta (1983) 0.96
Glycogen storage disease type Ib. Eur J Pediatr (1983) 0.95
Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin. Clin Chim Acta (1979) 0.95
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Management and clinical outcome of acute basilar artery dissection. AJNR Am J Neuroradiol (2008) 0.94
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Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase. J Inherit Metab Dis (1996) 0.94
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Lactobacillus casei response to pteroylpolyglutamates. Anal Biochem (1972) 0.93
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Association of single nucleotide polymorphisms in the diamine oxidase gene with diamine oxidase serum activities. Allergy (2011) 0.92
Plasma polyol levels in patients with cataract. J Inherit Metab Dis (1990) 0.92
Epidemiological observations on recent outbreaks of canine distemper in Tokyo area. J Vet Med Sci (1996) 0.91
Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. Am J Hum Genet (1994) 0.91
Clinical outcome and ischemic complication after treatment of anterior choroidal artery aneurysm: comparison between surgical clipping and endovascular coiling. AJNR Am J Neuroradiol (2007) 0.91
Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency. Eur J Pediatr (1988) 0.91
Thyroxine treatment induces upregulation of renin-angiotensin-aldosterone system due to decreasing effective plasma volume in patients with primary myxoedema. Nephrol Dial Transplant (2001) 0.90
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A mild juvenile variant of type IV glycogenosis. Brain Dev (1992) 0.90
Cataract and metabolic disease. J Inherit Metab Dis (1990) 0.90
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Integrative genetic and metabolite profiling analysis suggests altered phosphatidylcholine metabolism in asthma. Allergy (2013) 0.89
A simple assay for galactokinase using DEAE-cellulose column chromatography. Clin Chim Acta (1977) 0.89
The course of eczema in children aged 5-7 years and its relation to atopy: differences between boys and girls. Br J Dermatol (2006) 0.89
The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene. Am J Hum Genet (1989) 0.89
Serum biomarker panels for the diagnosis of gastric adenocarcinoma. Br J Cancer (2012) 0.89
Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants. J Inherit Metab Dis (1995) 0.89
Serotonin and dopamine synthesis in phenylketonuria. Adv Exp Med Biol (1981) 0.89
Psychoendocrine and psychoneuroimmunological mechanisms in the comorbidity of atopic eczema and attention deficit/hyperactivity disorder. Psychoneuroendocrinology (2012) 0.89
Rat brain folate identification. J Neurochem (1976) 0.88
The nucleotide and predicted amino acid sequence of the fusion protein of recent isolates of canine distemper virus in Japan. J Vet Med Sci (1998) 0.88
Which CT perfusion parameter best reflects cerebrovascular reserve?: correlation of acetazolamide-challenged CT perfusion with single-photon emission CT in Moyamoya patients. AJNR Am J Neuroradiol (2008) 0.88
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome. Hum Genet (2001) 0.88
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). Hum Mol Genet (1996) 0.88
Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis. Arch Dis Child (1978) 0.87
Glycogen storage disease: recommendations for treatment. Eur J Pediatr (1988) 0.87
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Changes in extracellular pH during electrical stimulation of isolated rat vagus nerve. Neurosci Lett (1986) 0.87
Pitfalls in the radioactive method of galactose-1-phosphate uridyltransferase activity measurement. Clin Chim Acta (1980) 0.86
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases. Am J Med Genet (1995) 0.86
Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes. J Inherit Metab Dis (1988) 0.86
Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet J Rare Dis (2006) 0.86