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Fatty Acid β-Oxidation May Be Associated with the Erythropoietin Resistance Index in Stable Patients Undergoing Haemodialysis.
- Published in:
- Diagnostics (2075-4418), 2024, v. 14, n. 20, p. 2295, doi. 10.3390/diagnostics14202295
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- Publication type:
- Article
Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.
- Published in:
- Journal of Genetics, 2015, v. 94, n. 1, p. 147, doi. 10.1007/s12041-015-0486-0
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- Publication type:
- Article
Ethylmalonic encephalopathy in an Indian boy.
- Published in:
- Indian Pediatrics, 2016, v. 53, n. 10, p. 914, doi. 10.1007/s13312-016-0959-0
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- Publication type:
- Article
Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2015, v. 41, n. 7, p. 1126, doi. 10.1111/jog.12672
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- Publication type:
- Article
A patient with urinary succinylacetone‐negative hereditary tyrosinemia type 1.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Lactate/pyruvate in hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
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
Biotin and carnitine deficiency due to hypoallergenic formula nutrition in infants with milk allergy.
- Published in:
- Pediatrics International, 2014, v. 56, n. 2, p. 286, doi. 10.1111/ped.12319
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- Publication type:
- Article
VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection.
- Published in:
- Pediatrics International, 2013, v. 55, n. 6, p. 775, doi. 10.1111/ped.12111
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- Publication type:
- Article
Biotin and carnitine profiles in preterm infants in Japan.
- Published in:
- Pediatrics International, 2013, v. 55, n. 3, p. 342, doi. 10.1111/ped.12053
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- Publication type:
- Article
Urinary oxidative stress markers in young patients with type 1 diabetes.
- Published in:
- Pediatrics International, 2006, v. 48, n. 1, p. 58, doi. 10.1111/j.1442-200X.2006.02156.x
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- Publication type:
- Article
Bone mineral status in ambulatory pediatric patients on long-term anti-epileptic drug therapy.
- Published in:
- Pediatrics International, 2002, v. 44, n. 3, p. 247, doi. 10.1046/j.1442-200X.2002.01561.x
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- Publication type:
- Article
Evaluation of a rapid reagent strip test for the diagnosis of childhood meningitis.
- Published in:
- Pediatrics International, 1999, v. 41, n. 4, p. 443, doi. 10.1046/j.1442-200X.1999.01110.x
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- Publication type:
- Article
Nitrite concentration in cerebrospinal fluid of infants: Evidence for enhanced nitric oxide production in Hemophilus influenzae meningitis.
- Published in:
- Pediatrics International, 1996, v. 38, n. 4, p. 420, doi. 10.1111/j.1442-200X.1996.tb03517.x
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- Publication type:
- Article
A case of familial thyroxine binding globulin excess associated with growth hormone deficiency.
- Published in:
- Pediatrics International, 1994, v. 36, n. 4, p. 408, doi. 10.1111/j.1442-200X.1994.tb03211.x
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- Publication type:
- Article
Free carnitine and short-chain acylcarnitines in cerebrospinal fluid of patients with disorders of propionate metabolism determined by fast atom bombardment and tandem mass spectrometry.
- Published in:
- Pediatrics International, 1994, v. 36, n. 1, p. 112, doi. 10.1111/j.1442-200X.1994.tb03143.x
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- Publication type:
- Article
Giant Hydroureteronephrosis Associated with Primary Obstructed Megaureter.
- Published in:
- Pediatrics International, 1991, v. 33, n. 6, p. 723, doi. 10.1111/j.1442-200X.1991.tb02598.x
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- Publication type:
- Article
Evaluation of Lumbar Bone Mineral Density by Dual Energy X-Ray Absorptiometry.
- Published in:
- Pediatrics International, 1991, v. 33, n. 4, p. 459, doi. 10.1111/j.1442-200X.1991.tb02572.x
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- Publication type:
- Article
Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome) with Hearing Impairment and Pupillary Membrane Remnants.
- Published in:
- Pediatrics International, 1991, v. 33, n. 4, p. 476, doi. 10.1111/j.1442-200X.1991.tb02574.x
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- Publication type:
- Article
Diagnosis of Iliopsoas Pyomyositis by Ultrasonography and CT.
- Published in:
- Pediatrics International, 1990, v. 32, n. 5, p. 555, doi. 10.1111/j.1442-200X.1990.tb00880.x
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- Publication type:
- Article
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 11, p. 609, doi. 10.1038/jhg.2014.79
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- Publication type:
- Article
Clinical features and management of organic acidemias in Japan.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 12, p. 769, doi. 10.1038/jhg.2013.97
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- Publication type:
- Article
Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 5, p. 285, doi. 10.1038/jhg.2013.17
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- Publication type:
- Article
Identification and Functional Analysis of Novel Human Growth Hormone Secretagogue Receptor (GHSR) Gene Mutations in Japanese Subjects with Short Stature.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 2, p. E373, doi. 10.1210/jc.2010-1570
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- Publication type:
- Article
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.
- Published in:
- Human Genetics, 2010, v. 127, n. 6, p. 619, doi. 10.1007/s00439-010-0822-7
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- Publication type:
- Article
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
- Published in:
- 2003
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- Publication type:
- Erratum
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
- Published in:
- Human Genetics, 2002, v. 111, n. 2, p. 161, doi. 10.1007/s00439-002-0761-z
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- Publication type:
- Article
Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.
- Published in:
- Human Genetics, 2000, v. 107, n. 4, p. 320, doi. 10.1007/s004390000363
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- Publication type:
- Article
Living-donor liver transplantation for propionic acidemia.
- Published in:
- Pediatric Transplantation, 2012, v. 16, n. 3, p. 230, doi. 10.1111/j.1399-3046.2011.01607.x
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- Publication type:
- Article
Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type II.
- Published in:
- European Journal of Endocrinology, 2012, v. 166, n. 2, p. 235, doi. 10.1530/EJE-11-0785
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- Publication type:
- Article
Acute encephalopathy with biphasic seizures and late reduced diffusion associated with Streptococcus sanguinis sepsis.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Identification of a Response Element for Vitamin D3 and Retinoic Acid in the Promoter Region of the Human Fructose-1,6-bisphosphatase Gene1.
- Published in:
- Journal of Biochemistry, 2000, v. 127, n. 3, p. 373, doi. 10.1093/oxfordjournals.jbchem.a022618
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- Publication type:
- Article
Long-term outcome and intervention of urea cycle disorders in Japan.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 777, doi. 10.1007/s10545-011-9427-0
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- Publication type:
- Article
Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 283, doi. 10.1007/s10545-010-9111-9
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- Publication type:
- Article
Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.
- Published in:
- Disease Markers, 2019, p. 1, doi. 10.1155/2019/2984747
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- Publication type:
- Article
Citrin deficiency: A treatable cause of acute psychosis in adults.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 15, doi. 10.3390/ijns10010015
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- Publication type:
- Article
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 62, doi. 10.3390/ijns9040062
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- Publication type:
- Article
Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030039
- By:
- Publication type:
- Article
Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030044
- By:
- Publication type:
- Article
Determinants of cardiorespiratory fitness in patients with chronic obstructive pulmonary disease, focusing on activities parallel to daily living.
- Published in:
- Respirology, 2004, v. 9, n. 3, p. 326, doi. 10.1111/j.1440-1843.2004.00605.x
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- Publication type:
- Article
High incorporation of long-chain fatty acids contributes to the efficient production of acylated ghrelin in ghrelin-producing cells.
- Published in:
- FEBS Letters, 2016, v. 590, n. 7, p. 992, doi. 10.1002/1873-3468.12132
- By:
- Publication type:
- Article
Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis.
- Published in:
- Tohoku Journal of Experimental Medicine, 2015, v. 237, n. 3, p. 235, doi. 10.1620/tjem.237.235
- By:
- Publication type:
- Article
A Heterozygous Missense Mutation in Adolescent-Onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Exercise-Induced Rhabdomyolysis.
- Published in:
- Tohoku Journal of Experimental Medicine, 2015, v. 235, n. 4, p. 305, doi. 10.1620/tjem.235.305
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- Publication type:
- Article
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
- Published in:
- Modern Rheumatology, 2019, v. 29, n. 1, p. 181, doi. 10.1080/14397595.2018.1442639
- By:
- Publication type:
- Article
Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.
- Published in:
- Modern Rheumatology, 2011, v. 21, n. 6, p. 641, doi. 10.3109/s10165-011-0442-7
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- Publication type:
- Article
Accumulation of N-Acetyl-L-Aspartate in the Brain of the Tremor Rat, a Mutant Exhibiting Absence-Like Seizure and Spongiform Degeneration in the Central Nervous System.
- Published in:
- Journal of Neurochemistry, 2000, v. 74, n. 6, p. 2512, doi. 10.1046/j.1471-4159.2000.0742512.x
- By:
- Publication type:
- Article
Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency.
- Published in:
- 2016
- By:
- Publication type:
- Letter