Found: 29
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High-risk screening for Fabry disease in hemodialysis patients in Chiba Prefecture, Japan.
- Published in:
- Clinical & Experimental Nephrology, 2023, v. 27, n. 3, p. 288, doi. 10.1007/s10157-022-02295-w
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- Article
Guide for diagnosis and treatment of hyperphenylalaninemia.
- Published in:
- Pediatrics International, 2021, v. 63, n. 1, p. 8, doi. 10.1111/ped.14399
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- Publication type:
- Article
A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-53449-y
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- Article
Clinical and genetic features of lysinuric protein intolerance in Japan.
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- Pediatrics International, 2016, v. 58, n. 10, p. 979, doi. 10.1111/ped.12946
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- Article
A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
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- Journal of Human Genetics, 2015, v. 60, n. 7, p. 347, doi. 10.1038/jhg.2015.38
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- Article
Inborn errors of ketone body utilization.
- Published in:
- Pediatrics International, 2015, v. 57, n. 1, p. 41, doi. 10.1111/ped.12585
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- Publication type:
- Article
Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1.
- Published in:
- Analytical & Bioanalytical Chemistry, 2013, v. 405, n. 4, p. 1345, doi. 10.1007/s00216-012-6532-3
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- Article
Long-term outcome and intervention of urea cycle disorders in Japan.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 777, doi. 10.1007/s10545-011-9427-0
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- Article
Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening.
- Published in:
- 2011
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- Publication type:
- journal article
A neonatal‐onset succinyl‐CoA:3‐ketoacid CoA transferase (SCOT)‐deficient patient with T435N and c.658‐666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 307, doi. 10.1007/s10545-010-9168-5
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- Article
Carnitine Palmitoy Itransferase 2 Deficiency: The Time-Course of Blood and Urinary Acylcarnitine Levels during Initial L-Carnitine Supplementation.
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- Tohoku Journal of Experimental Medicine, 2010, v. 221, n. 3, p. 191, doi. 10.1620/tjem.221.191
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- Article
Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency.
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- Hepatology Research, 2010, v. 40, n. 3, p. 295, doi. 10.1111/j.1872-034X.2009.00594.x
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- Article
Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency.
- Published in:
- 2009
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- Publication type:
- journal article
Children’s toxicology from bench to bed - Liver Injury (3): Oxidative stress and anti-oxidant systems in liver of patients with wilson disease.
- Published in:
- Journal of Toxicological Sciences, 2009, v. 34, p. SP229, doi. 10.2131/jts.34.SP229
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- Publication type:
- Article
Reduced Apolipoprotein E-Rich High-Density Lipoprotein Level at Birth Is Restored to the Normal Range in Patients with Familial Hypercholesterolemia in the First Year of Life.
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- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 779, doi. 10.1210/jc.2007-1621
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- Publication type:
- Article
Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk.
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- 2007
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- Publication type:
- journal article
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 349, doi. 10.1007/s10038-007-0122-9
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- Publication type:
- Article
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.
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- Journal of Human Genetics, 2007, v. 52, n. 1, p. 48, doi. 10.1007/s10038-006-0077-2
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- Publication type:
- Article
Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency.
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- 2006
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- Publication type:
- journal article
Rapid diagnosis of glycine encephalopathy by 13C‐glycine breath test.
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- Annals of Neurology, 2006, v. 59, n. 5, p. 862, doi. 10.1002/ana.20853
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- Publication type:
- Article
Congenital absence of portal vein with multiple hyperplastic nodular lesions in the liver.
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- Journal of Gastroenterology, 2003, v. 38, n. 3, p. 288, doi. 10.1007/s005350300050
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- Publication type:
- Article
Five novel SLC7A7 variants and y<sup>+</sup>L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
- Published in:
- Human Mutation, 2002, v. 20, n. 5, p. 375, doi. 10.1002/humu.10140
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- Publication type:
- Article
Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease.
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- Journal of Human Genetics, 1999, v. 44, n. 3, p. 206, doi. 10.1007/s100380050144
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- Publication type:
- Article
Expression analysis of two mutant human ornithine transcarbamylases in COS-7 cells.
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- Journal of Human Genetics, 1998, v. 43, n. 1, p. 54, doi. 10.1007/s100380050037
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- Publication type:
- Article
Carnitine Metabolism and Urinary Organic Acid Excretion in Reye's Syndrome and Salicylate Intoxication.
- Published in:
- Pediatrics International, 1990, v. 32, n. 4, p. 406, doi. 10.1111/j.1442-200X.1990.tb00853.x
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- Publication type:
- Article
A Case With the Infantile Type of Glycerol Kinase Deficiency.
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- Pediatrics International, 1987, v. 29, n. 3, p. 465, doi. 10.1111/j.1442-200X.1987.tb00347.x
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- Publication type:
- Article
NIEMANN-PICK DISEASE ASSOCIATED WITH LIVER DISORDERS.
- Published in:
- Pathology International, 1985, v. 35, n. 5, p. 1267, doi. 10.1111/j.1440-1827.1985.tb01017.x
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- Article
A Carbamyl Phosphate Synthetase I Deficiency with No Detectable Messenger RNA Activity.
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- Pediatrics International, 1984, v. 26, n. 2, p. 262, doi. 10.1111/j.1442-200X.1984.tb01823.x
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- Publication type:
- Article
Two Siblings with Complete Carbamyl Phosphate Synthetase I Deficiency.
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- Pediatrics International, 1984, v. 26, n. 1, p. 16, doi. 10.1111/j.1442-200X.1984.tb00594.x
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- Publication type:
- Article