Published in J Chromatogr B Analyt Technol Biomed Life Sci on September 20, 2012
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Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia). Cerebellum (2012) 0.85
Mutational spectrum of classical galactosaemia in Spain and Portugal. J Inherit Metab Dis (2006) 0.85
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A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria. J Lipid Res (1997) 0.83
Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency. J Inherit Metab Dis (1997) 0.83
Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency. Mol Genet Metab (2009) 0.83
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency. Hum Mutat (2003) 0.83
Utility of Histoscanning™ prior to prostate biopsy for the diagnosis of prostate adenocarcinoma. Actas Urol Esp (2013) 0.82
Exercise intolerance resulting from a muscle-restricted mutation in the mitochondrial tRNA(Leu (CUN)) gene. Ann Med (2001) 0.82
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. Clin Genet (2011) 0.82
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The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations. Heredity (Edinb) (2009) 0.81
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An atypical French form of pyruvate carboxylase deficiency. Brain Dev (1996) 0.80
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Indications for adjuvant radiotherapy treatment after surgery and novel modalities for treatment. Gynecol Oncol (2008) 0.80
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Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy. J Inherit Metab Dis (1996) 0.79
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Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis. J Inherit Metab Dis (2007) 0.79
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[Neuroimaging of hypoglycemia]. Rev Neurol (1998) 0.79
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Long survival in a case of peroxisomal biogenesis disorder with peroxisome mosaicism in the liver. Ann N Y Acad Sci (1996) 0.78
The endonuclease NL1Tc encoded by the LINE L1Tc from Trypanosoma cruzi protects parasites from daunorubicin DNA damage. Biochim Biophys Acta (2003) 0.78
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency. Hum Genet (1999) 0.78
Pyroglutamic aciduria and nephropathic cystinosis. J Inherit Metab Dis (1999) 0.77
[A pilot study on a specific measure for sleep disorders in Parkinson's disease: SCOPA-Sleep]. Rev Neurol (2006) 0.77
Controlled diet in phenylketonuria may cause serum carnitine deficiency. J Inherit Metab Dis (1993) 0.77
Plasma free fatty acids in mitochondrial fatty acid oxidation defects. Clin Chim Acta (1997) 0.77
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Oxygen consumption measurement in lymphocytes for the diagnosis of pediatric patients with oxidative phosphorylation diseases. Clin Biochem (2000) 0.76
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Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency. J Inherit Metab Dis (1995) 0.75
Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia. J Med Genet (1999) 0.75