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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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- Publication type:
- Article
Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
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
Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk.
- Published in:
- 2007
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- Publication type:
- journal article
NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.
- Published in:
- 2020
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- Publication type:
- Letter
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
- Published in:
- 2018
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- Publication type:
- journal article
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.
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- Journal of Clinical Investigation, 2004, v. 114, n. 6, p. 837, doi. 10.1172/JCI200420683
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- Publication type:
- Article
Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1502
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- Publication type:
- Article
A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1427
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- Publication type:
- Article
Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1129
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- Publication type:
- Article
Nationwide epidemiological survey of holoprosencephaly in Japan.
- Published in:
- Pediatrics International, 2020, v. 62, n. 5, p. 593, doi. 10.1111/ped.14135
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- Publication type:
- Article
High-dose Cepharanthin for pediatric chronic immune thrombocytopenia in Japan.
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- Pediatrics International, 2017, v. 59, n. 3, p. 303, doi. 10.1111/ped.13151
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- Publication type:
- Article
Preoperative urinary tract obstruction in scoliosis patients.
- Published in:
- Pediatrics International, 2017, v. 59, n. 1, p. 48, doi. 10.1111/ped.13115
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- Publication type:
- Article
Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate.
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- Pediatrics International, 2016, v. 58, n. 7, p. 651, doi. 10.1111/ped.12907
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- Publication type:
- Article
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome.
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- Pediatrics International, 2014, v. 56, n. 2, p. 180, doi. 10.1111/ped.12249
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- Publication type:
- Article
Case of an infant with hepatic cirrhosis caused by mitochondrial respiratory chain disorder.
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- Pediatrics International, 2013, v. 55, n. 4, p. e103, doi. 10.1111/ped.12098
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- Publication type:
- Article
Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.
- Published in:
- Pediatrics International, 2011, v. 53, n. 6, p. 921, doi. 10.1111/j.1442-200X.2011.03412.x
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- Publication type:
- Article
Fatal case of mitochondrial DNA depletion with severe asphyxia in a newborn.
- Published in:
- Pediatrics International, 2011, v. 53, n. 2, p. 240, doi. 10.1111/j.1442-200X.2010.03183.x
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- Publication type:
- Article
Measles pneumonia: Treatment of a near-fatal case with nitric oxide inhalation.
- Published in:
- Pediatrics International, 2002, v. 44, n. 4, p. 451, doi. 10.1046/j.1442-200X.2002.01570.x
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- Publication type:
- Article
A Case With the Infantile Type of Glycerol Kinase Deficiency.
- Published in:
- 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
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 509, doi. 10.1038/jhg.2015.57
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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.
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- Journal of Human Genetics, 2014, v. 59, n. 11, p. 609, doi. 10.1038/jhg.2014.79
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- Publication type:
- Article
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 581, doi. 10.1038/jhg.2014.71
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- Publication type:
- Article
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 10, p. 707, doi. 10.1038/jhg.2011.85
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- Publication type:
- Article
Expression analysis of two mutant human ornithine transcarbamylases in COS-7 cells.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 1, p. 54, doi. 10.1007/s100380050037
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- Publication type:
- Article
Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.
- Published in:
- 2015
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- Publication type:
- journal article
Children’s toxicology from bench to bed - Liver Injury (4): Mitochondrial respiratory chain disorder and liver disease in children.
- Published in:
- Journal of Toxicological Sciences, 2009, v. 34, p. SP237, doi. 10.2131/jts.34.SP237
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- Publication type:
- Article
A case of osteogenesis imperfecta diagnosed after subchondral insufficiency fracture of bilateral femoral heads.
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- Modern Rheumatology Case Reports, 2024, v. 8, n. 2, p. 386, doi. 10.1093/mrcr/rxae021
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- Publication type:
- Article
OTX2 Loss of Function Mutation Causes Anophthalmia and Combined Pituitary Hormone Deficiency with a Small Anterior and Ectopic Posterior Pituitary.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 1, p. 314, doi. 10.1210/jc.2008-1219
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- Publication type:
- Article
Indian childhood cirrhosis-like disease in a Japanese boy undergoing liver transplantation.
- Published in:
- 1999
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- Publication type:
- journal article
Decidualized Endometrial Stromal Cells Promote Mitochondrial Beta-Oxidation to Produce the Octanoic Acid Required for Implantation.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 8, p. 1014, doi. 10.3390/biom14081014
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- Publication type:
- Article
Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q<sub>10</sub>.
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 10, p. 1181, doi. 10.1515/jpem-2019-0205
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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.
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- European Journal of Endocrinology, 2012, v. 166, n. 2, p. 235, doi. 10.1530/EJE-11-0785
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- Publication type:
- Article
Loss of mitochondrial fatty acid β‐oxidation protein short‐chain Enoyl‐CoA hydratase disrupts oxidative phosphorylation protein complex stability and function.
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- FEBS Journal, 2023, v. 290, n. 1, p. 225, doi. 10.1111/febs.16595
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- Publication type:
- Article
Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-46772-x
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- Publication type:
- Article
Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report.
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- Clinical Case Reports, 2019, v. 7, n. 3, p. 553, doi. 10.1002/ccr3.2050
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- Publication type:
- Article
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 2, p. 155, doi. 10.1111/cge.13773
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- Publication type:
- Article
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 2115, doi. 10.1007/s10875-023-01584-7
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- Publication type:
- Article
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
- Published in:
- Annals of Neurology, 2004, v. 55, n. 1, p. 58
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- Publication type:
- Article
Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.
- Published in:
- Annals of Neurology, 2003, v. 54, n. 4, p. 473
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- Publication type:
- Article
Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment.
- Published in:
- Digestive Diseases & Sciences, 2021, v. 66, n. 11, p. 3885, doi. 10.1007/s10620-020-06722-4
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- Publication type:
- Article
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1143, doi. 10.1002/jimd.12547
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- Publication type:
- Article
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 819, doi. 10.1002/jimd.12218
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- Publication type:
- Article
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 685, doi. 10.1007/s10545-017-0042-6
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- Publication type:
- Article
Two neonatal cholestasis patients with mutations in the SRD5B1 ( AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 565, doi. 10.1007/s10545-012-9526-6
- By:
- Publication type:
- Article
Sustained high plasma mannose less sensitive to fluctuating blood glucose in glycogen storage disease type Ia children.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 75, doi. 10.1007/s10545-012-9514-x
- By:
- Publication type:
- Article
A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-90196-5
- By:
- Publication type:
- Article
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81015-y
- By:
- Publication type:
- Article
Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation.
- Published in:
- 2015
- By:
- Publication type:
- Letter