Tsutomu Takahashi

发表

The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear.

Y. Eto, H. Ida, T. Ohashi, 2013, Molecular genetics and metabolism.

Assessment of a New Piezoelectric Transducer Sensor for Noninvasive Cardiorespiratory Monitoring of Newborn Infants in the NICU

Kyoichi Ono, Nobuya Inagaki, Akira Ishida, 2010, Neonatology.

Ascorbic acid protects the newborn rat brain from hypoxic-ischemia

A. Ishida, Yoko Sato, Tsutomu Takahashi, 2009, Brain and Development.

Novel mutation in the TMPRSS6 gene with iron‐refractory iron deficiency anemia

A. Noguchi, Tsutomu Takahashi, M. Yano, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

IDENTIFICATION OF NOVEL GENETIC MUTATIONS IN JAPANESE PATIENTS WITH SEVERE CONGENITAL HYPOTHYROIDISM

Tsutomu Takahashi, H. Arai, Hiroyuki Adachi, 2013 .

Elevated Sphingomyelinase and Hypercytokinemia in Hemophagocytic Lymphohistiocytosis

Tsutomu Takahashi, M. Yano, G. Takada, 2002, Journal of pediatric hematology/oncology.

Familial mediterranean fever medicated with an herbal medicine in Japan

N. Uemura, Tsutomu Takahashi, G. Takada, 2004, Pediatrics international : official journal of the Japan Pediatric Society.

Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid.

A. Noguchi, Tsutomu Takahashi, T. Kanbayashi, 2006, The Tohoku journal of experimental medicine.

Phenotypical variety of insulin resistance in a family with a novel mutation of the insulin receptor gene.

M. Horikoshi, Yuichiro Yamada, T. Kadowaki, 2010, Endocrine journal.

Serum uric acid as an obesity-related indicator in early adolescence.

Tsutomu Takahashi, G. Takada, T. Ohno, 2006, The Tohoku journal of experimental medicine.

Development of a diagnostic screening strategy for Niemann-Pick diseases based on simultaneous liquid chromatography/tandem mass spectrometry analyses of N-palmitoyl-O-phosphocholine-serine and sphingosylphosphorylcholine.

K. Higaki, Y. Eto, N. Mano, 2020, Biological & pharmaceutical bulletin.

AN INVESTIGATION OF MOLECULAR LESIONS IN TWO JAPANESE FAMILIES WITH FAMILIAL PAROXYSMAL KINESIGENIC DYSKINESIA

A. Noguchi, Tsutomu Takahashi, T. Yano, 2018 .

Coronary artery aneurysm after kawasaki disease in a single coronary artery.

Tsutomu Takahashi, S. Shimada, M. Toyono, 2013, Circulation journal : official journal of the Japanese Circulation Society.

Johanson-Blizzard Syndrome: Loss of Glucagon Secretion Response to Insulin-induced Hypoglycemia

Tsutomu Takahashi, G. Takada, S. Tsuchida, 2004 .

Dynamics of human erythroblast enucleation

Takehiko Sasaki, N. Takahashi, Y. Takakuwa, 2008, International journal of hematology.

Elevation of Serum Acid Sphingomyelinase Activity in Acute Kawasaki Disease.

M. Tamura, A. Noguchi, Tsutomu Takahashi, 2015, The Tohoku journal of experimental medicine.

Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency.

H. Ninomiya, Tsutomu Takahashi, G. Takada, 2006, Molecular genetics and metabolism.

Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.

H. Sakuraba, Tsutomu Takahashi, G. Takada, 2006, The journal of medical investigation : JMI.

Elevation of Serum Acid Sphingomyelinase Activity in Children with Acute Respiratory Syncytial Virus Bronchiolitis.

A. Noguchi, Tsutomu Takahashi, S. Yoshida, 2017, The Tohoku journal of experimental medicine.

Liver fibrosis in an extremely small infant for gestational age.

A. Noguchi, Tsutomu Takahashi, H. Arai, 2010, The Tohoku journal of experimental medicine.

Long-term administration of beraprost sodium for pulmonary arterial hypertension associated with congenital heart disease.

M. Tamura, Tsutomu Takahashi, S. Shimada, 2009, Internal medicine.

Hypoxia–ischemia induces hypo-phosphorylation of collapsin response mediator protein 2 in a neonatal rat model of periventricular leukomalacia

Yoko Sato, Tsutomu Takahashi, Wako Ishida-Nakajima, 2011, Brain Research.

Acid sphingomyelinase: relation of 93lysine residue on the ratio of intracellular to secreted enzyme activity.

E. Schuchman, Tsutomu Takahashi, G. Takada, 2005, The Tohoku journal of experimental medicine.

Bubbly and cystic appearance on chest radiograph of extremely preterm infants with bronchopulmonary dysplasia is associated with wheezing disorder

Tsutomu Takahashi, Masatoshi Ito, H. Arai, 2020, Acta paediatrica.

Impact of chest radiography‐based definition of bronchopulmonary dysplasia

Tsutomu Takahashi, Masatoshi Ito, H. Arai, 2019, Pediatrics international : official journal of the Japan Pediatric Society.

Low level of tracheal cellular fibronectin in extremely premature infants with funisitis: Relationship with respiratory distress 1 month after birth

Tsutomu Takahashi, H. Arai, R. Goto, 2014, Pediatric pulmonology.

Galacto-N-biose is neuroprotective against glutamate-induced excitotoxicity in vitro.

Y. Shinoda, M. Kitaoka, M. Nakajima, 2016, European journal of pharmacology.

HYPOXIC-ISCHEMIC BRAIN INJURY IN NEWBORN RAT : NEUROPROTECTIVE EFFECTS OF ACETAMINOPHEN AND THE INVOLVEMENT OF ACID SPHINGOMYELINASE ACTIVATION

Yoko Sato, Tsutomu Takahashi, Wako Ishida-Nakajima, 2013 .

Renovascular hypertension due to antithrombin deficiency in childhood

Satoshi Takahashi, Tsutomu Takahashi, G. Takada, 2004, Pediatric Nephrology.

No Involvement of Acid Sphingomyelinase in the Secretion of IL-6 from Alveolar Macrophages in Rat

Tsutomu Takahashi, H. Arai, Tomoo Ito, 2014 .

SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families

A. Noguchi, Tsutomu Takahashi, G. Takada, 2000, Human mutation.

Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.

S. Moriwaki, A. Noguchi, Tsutomu Takahashi, 2016, The Tohoku journal of experimental medicine.

Preterm toddlers have low nighttime sleep quality and high daytime activity

A. Manabe, M. Kikuchi, Y. Yoshimura, 2022, Scientific Reports.

Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese

Tsutomu Takahashi, G. Takada, S. Tsuchida, 2005, Pediatric Nephrology.

Expanding coronary aneurysm in the late phase of Kawasaki disease

M. Tamura, Tsutomu Takahashi, S. Shimada, 2012, Pediatrics international : official journal of the Japan Pediatric Society.

A Case Report of Pediatric Fulminant Hepatitis Treated With Plasma Diafiltration

A. Noguchi, Tsutomu Takahashi, H. Nakae, 2008, Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy.

A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population.

A. Koizumi, Tsutomu Takahashi, G. Takada, 2006, The Tohoku journal of experimental medicine.

Pulse methylprednisolone therapy in type 3 adenovirus pneumonia with hypercytokinemia.

H. Saito, Tsutomu Takahashi, G. Takada, 2006, Tohoku journal of experimental medicine.

Split notochord syndrome: ileal duplication causing intermittent episodes of vomiting.

H. Nanjo, A. Noguchi, Tsutomu Takahashi, 2006, The Tohoku journal of experimental medicine.

Ala/Thr60 variant of the Leydig insulin‐like hormone is not associated with cryptorchidism in the Japanese population

Tsutomu Takahashi, G. Takada, I. Takahashi, 2001, Pediatrics international : official journal of the Japan Pediatric Society.

A case of lower urinary tract obstruction with renal damage complicated by esophageal atresia

Tsutomu Takahashi, Masataka Inoue, S. Tsuchida, 2015 .

Prolonged activation of the hypothalamus– pituitary–gonadal axis in a child with X‐linked adrenal hypoplasia congenita

Tsutomu Takahashi, G. Takada, I. Takahashi, 2000, Clinical endocrinology.

Overview of symptoms and treatment for lysinuric protein intolerance

A. Noguchi, Tsutomu Takahashi, 2019, Journal of Human Genetics.

Large intracardiac thrombus in a patient with steroid‐responsive nephrotic syndrome

Tsutomu Takahashi, M. Toyono, S. Tsuchida, 2016, Nephrology.

Novel TRAPPC2 mutation in a boy with X‐linked spondylo‐epiphyseal dysplasia tarda

Tsutomu Takahashi, Hiroyuki Adachi, I. Takahashi, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation

K. Zerres, S. Rudnik-Schöneborn, T. Eggermann, 2010, American journal of medical genetics. Part A.

Long-acting gonadotropin-releasing hormone analogue treatment for central precocious puberty in maternal uniparental disomy chromosome 14.

A. Koizumi, Tsutomu Takahashi, G. Takada, 2005, The Tohoku journal of experimental medicine.

Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome.

H. Soejima, H. Nishibori, A. Noguchi, 2013, Endocrine journal.

De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III)

N. Tachi, K. Hayasaka, G. Nicholson, 1993, Nature Genetics.

A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia

A. Noguchi, Tsutomu Takahashi, T. Yano, 2018, Human Genome Variation.

Combined linkage analysis and exome sequencing identifies novel genes for familial goiter

H. Okuda, A. Koizumi, Kouji H. Harada, 2013, Journal of Human Genetics.

A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings

Yoko Sato, A. Noguchi, Tsutomu Takahashi, 2018, Brain and Development.

Formation of a membrane from repeated thoracostomy and thoracoamniotic shunting

W. Ishida, Tsutomu Takahashi, Masanari Kawamura, 2011, Pediatrics international : official journal of the Japan Pediatric Society.

E44Q mutation in NaV1.7 in a patient with infantile paroxysmal knee pain: electrophysiological analysis of voltage-dependent sodium current

H. Okuda, T. Ohba, A. Koizumi, 2021, Heliyon.

A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period

A. Noguchi, Tsutomu Takahashi, M. Toyono, 2020, Case reports in genetics.

Juvenile‐onset systemic lupus erythematosus with severe hypertriglyceridemia induced by anti‐apolipoprotein C‐II antibody

S. Kihara, Hiroyasu Yamamoto, Tsutomu Takahashi, 2019, Pediatrics international : official journal of the Japan Pediatric Society.

Tropoelastin regulates chemokine expression in fibroblasts in Costello syndrome.

D. Tsuji, Reiko Fujinawa, Y. Kozutsumi, 2008, Biochemical and biophysical research communications.

Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report

K. Kosaki, F. Miya, Mamiko Yamada, 2022, BMC Neurology.

Mutational analyses of AVPR2 gene in three Japanese families with X‐linked nephrogenic diabetes insipidus: Two recurrent mutations, R137H and ΔV278, caused by the hypermutability at CpG dinucleotides

H. Kito, Y. Suzuki, T. Suzuki, 1998, Human mutation.

Significant decrease in tropoelastin gene expression in fibroblasts from a Japanese Costello syndrome patient with impaired elastogenesis and enhanced proliferation.

D. Tsuji, H. Sakuraba, Tsutomu Takahashi, 2006, Journal of biochemistry.

Signaling pathway for radiation-induced apoptosis in the lymphoblasts from neuronopathic (type A) and non-neuronopathic (type B) forms of Niemann–Pick disease

Y. Minamiya, A. Ishida, Tsutomu Takahashi, 2002, Journal of the Neurological Sciences.

Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann–Pick disease

R. Desnick, E. Schuchman, Tsutomu Takahashi, 1992, Human mutation.

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.

S. Packman, B. Bembi, D. Cassiman, 2016, Molecular genetics and metabolism.

Acute Responsive Elevation of Serum Secretory Acid Sphingomyelinase Activity in Infants with Respiratory Syncytial Virus Bronchiolitis

A. Noguchi, Tsutomu Takahashi, S. Tsuchida, 2021 .

Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years

K. Sawada, Toshiyuki Yamamoto, Tsutomu Takahashi, 2012, American journal of medical genetics. Part A.

Amlodipine besilate induced ascites in a patient with systemic lupus erythematosus

A. Noguchi, Tsutomu Takahashi, S. Tsuchida, 2011 .

Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families

M. Tominaga, H. Okuda, A. Koizumi, 2016, PloS one.

Detection of Pathologic Heart Murmurs Using a Piezoelectric Sensor

Kyoichi Ono, Kiichi Takahashi, Hirokazu Arai, 2021, Sensors.

Effectiveness of rotavirus vaccines against hospitalisations in Japan

A. Noguchi, Tsutomu Takahashi, Shinobu Miura, 2017, BMC Pediatrics.

Spread and predominance in Japan of novel G1P[8] double-reassortant rotavirus strains possessing a DS-1-like genotype constellation typical of G2P[4] strains.

K. Katayama, A. Noguchi, Tsutomu Takahashi, 2014, Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases.

A retrospective, hospital-based study to determine the incidence of rotavirus hospitalizations among children less than 5 years of age over a 10-year period (2001-2011) in Akita prefecture, Japan.

A. Noguchi, Tsutomu Takahashi, Shinobu Miura, 2014, Japanese journal of infectious diseases.

Detection in Japan of an equine-like G3P[8] reassortant rotavirus A strain that is highly homologous to European strains across all genome segments

A. Noguchi, Tsutomu Takahashi, C. Agbemabiese, 2018, Archives of Virology.

Psychosocial Dwarfism: A Case Report

A. Noguchi, Tsutomu Takahashi, G. Takada, 2005 .

Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis

J. Argente, N. Rezaei, M. Zenker, 2017, Molecular Genetics & Genomic Medicine.

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

E. Nanba, Y. Eto, Yuji Takahashi, 2018, BMC Neurology.

Altered central aortic elastic properties in Kawasaki disease are related to changes in left ventricular geometry and coronary artery aneurysm formation.

Tsutomu Takahashi, S. Shimada, M. Toyono, 2012, Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography.

Noninvasive Estimation of Left Ventricular End‐Diastolic Pressure Using Tissue Doppler Imaging Combined with Pulsed‐Wave Doppler Echocardiography in Patients with Ventricular Septal Defects: A Comparison with the Plasma Levels of the B‐Type Natriuretic Peptide

K. Harada, M. Tamura, Tsutomu Takahashi, 2007, Echocardiography.

X‐linked adrenal hypoplasia congenita: Testicular histology before puberty

Tetsuo Kato, H. Nanjo, Tsutomu Takahashi, 2007, Pediatrics international : official journal of the Japan Pediatric Society.

Incidence of intussusception as studied from a hospital-based retrospective survey over a 10-year period (2001-2010) in Akita Prefecture, Japan.

H. Noguchi, N. Uemura, A. Noguchi, 2012, Japanese journal of infectious diseases.

Tacrolimus concentrations after renal transplantation in a mother‐neonate dyad: Maternal, neonatal and breast milk measurements

M. Miura, S. Satoh, H. Kagaya, 2021, Journal of clinical pharmacy and therapeutics.

Neonatal transient eosinophilic colitis with single bubble sign

A. Noguchi, Tsutomu Takahashi, H. Arai, 2018, Pediatrics international : official journal of the Japan Pediatric Society.

Lung adenocarcinoma in a patient with Li-Fraumeni syndrome bearing a novel germ-line mutation, TP53R333Vfs*12.

H. Shibata, K. Fukuda, Tsutomu Takahashi, 2020, Japanese journal of clinical oncology.

A molecular lesion in a Japanese patient with severe phenotype of 3‐methylglutaconic aciduria type I

Tsutomu Takahashi, G. Takada, M. Matsumori, 2005, Pediatrics international : official journal of the Japan Pediatric Society.

Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new cases

S. Packman, B. Bembi, D. Cassiman, 2016 .

An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase.

A. Noguchi, Tsutomu Takahashi, Tetsuya Ito, 2020, The Tohoku journal of experimental medicine.

A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia

A. Noguchi, Tsutomu Takahashi, T. Yano, 2018, Human Genome Variation.

Bronchoalveolar lavage fluid in an infant with perinatal lethal Gaucher disease

H. Nanjo, A. Noguchi, Tsutomu Takahashi, 2017, Pediatrics International.

Clinical and genetic features of lysinuric protein intolerance in Japan

F. Endo, Shigenori Yamamoto, T. Okuyama, 2016, Pediatrics international : official journal of the Japan Pediatric Society.

BUTYRATE REDUCES FREE CHOLESTEROL ACCUMULATION IN NIEMANN-PICK DISEASE TYPE C1 CELLS (NOVA SCOTIA FORM) THROUGH THE INDUCTION OF ACID SPHINGOMYELINASE

A. Noguchi, Tsutomu Takahashi, M. Hirayama, 2012 .

Sleep maturation influences cognitive development of preterm toddlers

A. Manabe, M. Kikuchi, Y. Yoshimura, 2021, Scientific Reports.

Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213].

S. Packman, B. Bembi, D. Cassiman, 2017, Molecular genetics and metabolism.

Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3

K. Kosaki, T. Takenouchi, Mamiko Yamada, 2022, Human Genome Variation.

Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.

R. Desnick, E. Schuchman, Tsutomu Takahashi, 1992, The Journal of biological chemistry.

SECONDARY IMPAIRMENT OF INTRACELLULAR CHOLESTEROL TRANSPORT IN CELLS WITH NIEMANN-PICK DISEASE TYPE C

Tsutomu Takahashi, K. Oyama, Chikako Oyama, 2011 .

Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q.

K. Harada, Tsutomu Takahashi, G. Takada, 1998, American journal of human genetics.

3-Methylglutaconic aciduria type I: Clinical heterogeneity as a neurometabolic disease

A. Ishida, Tsutomu Takahashi, G. Takada, 1999, Journal of Inherited Metabolic Disease.

Familial episodic limb pain in kindreds with novel Nav1.9 mutations

Takeshi Yoshida, H. Okuda, Y. Kato, 2018, PloS one.

Paroxysmal limb intolerable pain (infantile pain episodes associated with novel Nav1.9 mutations in familial episodic pain syndrome).

H. Okuda, A. Koizumi, A. Noguchi, 2017, Nihon rinsho. Japanese journal of clinical medicine.