Found: 123
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Total IgE at 6 months predicts remittance or persistence of atopic dermatitis at 14 months.
- Published in:
- Allergy & Asthma Proceedings, 2013, v. 34, n. 4, p. 362, doi. 10.2500/aap.2013.34.3678
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- Publication type:
- Article
Lysinuric protein intolerance in siblings: complication of systemic lupus erythematosus in the elder sister.
- Published in:
- 2001
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- Publication type:
- Case Study
Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy.
- Published in:
- 2000
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- Publication type:
- journal article
Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 2, p. 96, doi. 10.1111/j.1399-0004.1998.tb02654.x
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- Publication type:
- Article
Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 322, doi. 10.1111/j.1399-0004.1997.tb02481.x
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- Publication type:
- Article
Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes.
- Published in:
- Clinical Genetics, 1996, v. 50, n. 4, p. 263, doi. 10.1111/j.1399-0004.1996.tb02641.x
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- Publication type:
- Article
Life-threatening cardiac involvement throughout life in a case of Costello syndrome.
- Published in:
- Clinical Genetics, 1996, v. 50, n. 4, p. 244, doi. 10.1111/j.1399-0004.1996.tb02636.x
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- Publication type:
- Article
Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 2025, doi. 10.3390/ijms21062025
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- Publication type:
- Article
Craniofacial CT findings of Gorham-Stout disease and generalized lymphatic anomaly.
- Published in:
- Neuroradiology, 2016, v. 58, n. 8, p. 801, doi. 10.1007/s00234-016-1691-0
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- Publication type:
- Article
The peroxisomal zebrafish SCP2-thiolase (type-1) is a weak transient dimer as revealed by crystal structures and native mass spectrometry.
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- Biochemical Journal, 2019, v. 476, n. 2, p. 307, doi. 10.1042/BCJ20180788
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- Publication type:
- Article
Loss‐of‐function polymorphisms in NQO1 are not associated with the development of subacute myelo‐optico‐neuropathy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2470
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- Publication type:
- Article
Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo‐optico‐neuropathy (SMON).
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 1, p. 1, doi. 10.1002/mgg3.1845
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- Publication type:
- Article
A retrospective study of 2 or 3 mg/kg/day propranolol for infantile hemangioma.
- Published in:
- 2020
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- Publication type:
- Case Study
Respiratory illness and acute flaccid myelitis in the Tokai district in 2018.
- Published in:
- Pediatrics International, 2020, v. 62, n. 3, p. 337, doi. 10.1111/ped.14128
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- Publication type:
- Article
Novel variants of ABCC9 in Japanese children with Cantú syndrome.
- Published in:
- 2020
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- Publication type:
- Case Study
Low‐dose sirolimus for a patient with blue rubber bleb nevus syndrome.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Immunoglobulin A vasculitis complicated with posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome.
- Published in:
- 2019
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- Publication type:
- Case Study
Efficacy of sirolimus in an infant with Kasabach–Merritt phenomenon.
- Published in:
- 2018
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- Publication type:
- Case Study
Chest imaging in generalized lymphatic anomaly and kaposiform lymphangiomatosis.
- Published in:
- Pediatrics International, 2018, v. 60, n. 7, p. 667, doi. 10.1111/ped.13593
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- Publication type:
- Article
Neonatal dysphonia caused by subglottic infantile hemangioma.
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- Pediatrics International, 2017, v. 59, n. 8, p. 935, doi. 10.1111/ped.13308
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- Publication type:
- Article
Propranolol for infantile hemangioma: Effect on plasma vascular endothelial growth factor.
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- Pediatrics International, 2016, v. 58, n. 11, p. 1130, doi. 10.1111/ped.12981
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- Publication type:
- Article
Complete bone regeneration in hemophilic pseudotumor of the mandible.
- Published in:
- Pediatrics International, 2016, v. 58, n. 5, p. 406, doi. 10.1111/ped.12820
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- Publication type:
- Article
Mondini dysplasia with recurrent bacterial meningitis caused by three different pathogens.
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- Pediatrics International, 2015, v. 57, n. 6, p. 1192, doi. 10.1111/ped.12731
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- Publication type:
- 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
Facial palsy as an unusual presenting symptom associated with acute myeloid leukemia.
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- Pediatrics International, 2014, v. 56, n. 4, p. e37, doi. 10.1111/ped.12384
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- Publication type:
- Article
Pediatric acute lymphoblastic leukemia mimicking Henoch-Schönlein purpura.
- Published in:
- 2011
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- Publication type:
- Journal Article
Successful treatment of pediatric immune thrombocytopenic purpura associated with ulcerative colitis.
- Published in:
- Pediatrics International, 2011, v. 53, n. 5, p. 771, doi. 10.1111/j.1442-200X.2010.03308.x
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- Publication type:
- Article
Pediatric acute lymphoblastic leukemia mimicking Henoch-Schönlein purpura.
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- Pediatrics International, 2011, v. 53, n. 5, p. 766, doi. 10.1111/j.1442-200X.2011.03445.x
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- Publication type:
- Article
Escherichia coli O-157-induced hemolytic uremic syndrome: Usefulness of SCWP score for the prediction of neurological complication.
- Published in:
- Pediatrics International, 2009, v. 51, n. 1, p. 107, doi. 10.1111/j.1442-200X.2008.02672.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
Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.
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- Journal of Human Genetics, 2013, v. 58, n. 12, p. 788, doi. 10.1038/jhg.2013.103
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- Publication type:
- Article
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation.
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- Journal of Human Genetics, 2009, v. 54, n. 3, p. 145, doi. 10.1038/jhg.2009.3
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- Publication type:
- Article
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.
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- Journal of Human Genetics, 2005, v. 50, n. 8, p. 395, doi. 10.1007/s10038-005-0266-4
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- Publication type:
- Article
Fate of the mutated IgG2 heavy chain: lack of expression of mutated membrane-bound IgG2 on the B cell surface in selective IgG2 deficiency.
- Published in:
- International Immunology, 2001, v. 13, n. 2, p. 249, doi. 10.1093/intimm/13.2.249
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- Publication type:
- Article
Microsatellite instability in B-cell lymphoma originating from Bloom syndrome.
- Published in:
- International Journal of Cancer, 1996, v. 69, n. 6, p. 480, doi. 10.1002/(SICI)1097-0215(19961220)69:6<480::AID-IJC11>3.0.CO;2-5
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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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- Publication type:
- Article
PRENATAL DIAGNOSIS OF SUCCINYL-COENZYME A:3-KETOACID COENZYME A TRANSFERASE DEFICIENCY.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 5, p. 471, doi. 10.1002/(SICI)1097-0223(199605)16:5<471::AID-PD898>3.0.CO;2-E
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- Publication type:
- Article
PRENATAL DIAGNOSIS OF ADRENOLEUKODYSTROPHY BY MEANS OF MUTATION ANALYSIS.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 3, p. 259, doi. 10.1002/(SICI)1097-0223(199603)16:3<259::AID-PD840>3.0.CO;2-E
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- Publication type:
- Article
Prenatal diagnosis in a family with mitochondrial acetoacetyl-coenzyme a thiolase deficiency with the use of the polymerase chain reaction followed by the heteroduplex detection method.
- Published in:
- Prenatal Diagnosis, 1995, v. 15, n. 4, p. 363, doi. 10.1002/pd.1970150411
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- Publication type:
- Article
Analysis of mTOR pathway expression in lymphatic malformation and related diseases.
- Published in:
- Pathology International, 2020, v. 70, n. 6, p. 323, doi. 10.1111/pin.12913
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- Publication type:
- Article
Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis.
- Published in:
- 2019
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- Publication type:
- journal article
The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation.
- Published in:
- Pediatric Transplantation, 2017, v. 21, n. 5, p. n/a, doi. 10.1111/petr.12948
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- Publication type:
- Article
Disruption of the BLM gene in ATM-null DT40 cells does not exacerbate either phenotype.
- Published in:
- Oncogene, 2004, v. 23, n. 8, p. 1498, doi. 10.1038/sj.onc.1207276
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- Publication type:
- Article
Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 35, doi. 10.1002/jmd2.12093
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- Publication type:
- Article
A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 48, n. 1, p. 19, doi. 10.1002/jmd2.12051
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- Publication type:
- Article
A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 48, n. 1, p. 15, doi. 10.1002/jmd2.12041
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- Publication type:
- Article
Beta‐ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 23, doi. 10.1002/jmd2.12022
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- Publication type:
- Article
Merkel Cell Polyomavirus-positive Merkel Cell Carcinoma in a Patient with Epidermodysplasia Verruciformis.
- Published in:
- 2015
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- Publication type:
- Case Study
Diffuse large B-cell lymphoma presenting with osteolytic lesions in the bilateral femur.
- Published in:
- European Journal of Haematology, 2009, v. 83, n. 5, p. 502, doi. 10.1111/j.1600-0609.2009.01300.x
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- Publication type:
- Article