N. Sakura

发表

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

F. Endo, T. Nakahata, H. Mitsubuchi, 2002, Human Genetics.

Isolation of "myocardial depressant factor(s)" from the ultrafiltrate of heart failure patients with acute renal failure.

F. Fouad-Tarazi, N. Sakura, M. Khosla, 1996, ASAIO journal.

Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with a Mutant Phenylalanine Hydroxylase Gene

Y. Matsubara, T. Kitagawa, H. Shintaku, 2004, Pediatric Research.

Plasma concentrations of disodium cromoglycate after various inhalation methods in healthy subjects.

N. Sakura, K. Ueda, Y. Kato, 1999, British journal of clinical pharmacology.

Presumed BCG Infection in a Boy with Chronic Granulomatous Disease

N. Sakura, M. Kobayashi, T. Usui, 1984, Clinical pediatrics.

A case of MELAS: hyperperfused lesions detected by non-invasive perfusion-weighted MR imaging.

Katsuhide Ito, N. Sakura, T. Kajima, 2002, Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine.

Application of delayed extraction-matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in pericardial fluid, peritoneal fluid and serum from Gaucher disease patients.

S. Yamaguchi, N. Sakura, T. Taketomi, 2002, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Allergic disease as an association of steroid sulphatase deficiency

N. Sakura, S. Nishimura, T. Matsumoto, 1997, Journal of Inherited Metabolic Disease.

Altered metabolisms of mediators controlling vascular function and enhanced oxidative stress in asymptomatic children with congenital portosystemic venous shunt.

H. Tsukahara, Kunihiko Kobayashi, T. Miida, 2010, Metabolism: clinical and experimental.

Clinical significance of Gaucher cells in cerebrospinal fluid

N. Sakura, A. Fujita, H. Ueda, 1999, Acta paediatrica.

Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency

N. Sakura, H. Ono, S. Nomura, 1998, Journal of Inherited Metabolic Disease.

Plasma total glutathione concentrations in epileptic patients taking anticonvulsants.

N. Sakura, H. Ono, A. Sakamoto, 2000, Clinica chimica acta; international journal of clinical chemistry.

Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.

Masao Kobayashi, Y. Hasegawa, S. Yamaguchi, 2005, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Leukotriene B4 metabolism in neutrophils of patients with chronic granulomatous disease: phorbol myristate acetate decreases endogenous leukotriene B4via NADPH oxidase‐dependent mechanism

N. Sakura, M. Kobayashi, T. Sakano, 1989, European journal of clinical investigation.

Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.

Yukie Tanaka, S. Yamaguchi, Y. Shigematsu, 2002, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity

T. Fukao, N. Kondo, S. Yamaguchi, 2003, Journal of Inherited Metabolic Disease.

Significance of the eosinophil cationic protein/eosinophil count ratio in asthmatic patients: its relationship to disease severity.

N. Sakura, H. Kawaguchi, K. Ueda, 2001, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: Clinical significance of portal vein imaging

T. Saheki, N. Sakura, K. Kobayashi, 2004, Journal of Inherited Metabolic Disease.

Morning and afternoon serum levels of cortisone and cortisol in asthmatic patients.

N. Sakura, K. Ueda, M. Fujitaka, 2000, Clinica chimica acta; international journal of clinical chemistry.

Hyperhistaminemia in patients with histidinemia due to increased decarboxylation of histidine.

N. Sakura, M. Tanabe, 1989, Clinica chimica acta; international journal of clinical chemistry.

Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I

Yasuyuki Suzuki, M. Kubota, S. Yamaguchi, 2010, Journal of Inherited Metabolic Disease.

Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan

K. Hayasaka, M. Okubo, T. Murase, 1999, Human Genetics.

Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia

I. Yuasa, K. Yamashita, K. Ohno, 2003, Brain & development (Tokyo. 1979).

Determination of etoposide serum concentrations in small pediatric samples by an improved method of reversed-phase high-performance liquid chromatography.

N. Sakura, S. Nishimura, K. Ueda, 2003, Acta medica Okayama.

Gas chromatographic–mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples

F. Endo, H. Mitsubuchi, N. Sakura, 2002, Journal of Inherited Metabolic Disease.

Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination.

Yukie Tanaka, S. Yamaguchi, Y. Shigematsu, 2003, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Impaired production of leukotrienes by peripheral blood polymorphonuclear leukocytes from children with chronic renal failure.

N. Sakura, M. Kobayashi, T. Sakano, 1988, Clinica chimica acta; international journal of clinical chemistry.

Steroid Sulfatase Activity in Nails: Screening for X‐Linked Ichthyosis

N. Sakura, K. Ueda, T. Matsumoto, 1990, Pediatric dermatology.

Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

Y. Matsubara, Y. Suzuki, K. Narisawa, 1998, Biochemical and biophysical research communications.

Asthma as the First Presenting Symptom of Complex Glycerol Kinase Deficiency

N. Sakura, S. Nishimura, S. Yamaguchi, 1991, Acta paediatrica Scandinavica.

Captopril in hypertensive emergencies.

N. Sakura, H. Yahata, H. Kurogane, 1981, Hiroshima journal of medical sciences.

COMPARISON OF PLASMA CONCENTRATIONS OF DISODIUM CROMOGLYCATE ADMINISTERED BY THREE TYPES OF NEBLIZER

N. Sakura, H. Kawaguchi, Y. Kato, 2004 .

Inhibition by adenine of in vitro immunological functions of normal and adenine phosphoribosyltransferase-deficient human lymphocytes.

E. Kittaka, N. Sakura, T. Suzawa, 1985, Immunopharmacology.

Complete deficiency of adenine phosphoribosyl transferase: report of a new family.

N. Sakura, T. Nakamoto, H. Nakatsu, 1983, The Journal of urology.

Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.

M. Ohtsubo, S. Okada, M. Tsumura, 2016, Molecular genetics and metabolism.

Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.

S. Okada, M. Tsumura, Masao Kobayashi, 2016, Molecular genetics and metabolism.

Betaine and homocysteine concentrations in foods

N. Sakura, Akiko Sakamoto, Yutaka Nishimura, 2002, Pediatrics international : official journal of the Japan Pediatric Society.

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus.

A. Ballabio, G. Rappold, T. Ogata, 1996, American journal of medical genetics.

Clinical features and outcome of eight infants with intrahepatic porto‐venous shunts detected in neonatal screening for galactosaemia

N. Sakura, T. Eguchi, N. Mizoguchi, 1998, Acta paediatrica.

Enzymatic diagnosis of steroid sulfatase deficiency by high performance liquid chromatography.

N. Sakura, K. Ueda, T. Matsumoto, 1993, Clinica chimica acta; international journal of clinical chemistry.

Frequency of steroid sulfatase deficiency in Hiroshima

N. Sakura, S. Nishimura, T. Matsumoto, 1998, Acta paediatrica Japonica : Overseas edition.

Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions.

N. Sakura, S. Nishimura, K. Ueda, 1991, American journal of medical genetics.

Steroid sulfatase deficiency with bilateral periventricular nodular heterotopia.

H. Ozawa, M. Ōsawa, T. Nagai, 2006, Pediatric neurology.

Type II Citrullinaemia (Citrin Deficiency) in a Neonate with Hypergalactosaemia Detected by Mass Screening

T. Saheki, I. Yokota, T. Saijo, 2002, Journal of Inherited Metabolic Disease.

Functional analysis of polymorphonuclear leukocytes in siblings of glucose-6-phosphate dehydrogenase deficiency.

N. Sakura, M. Kobayashi, T. Usui, 1983, Hiroshima journal of medical sciences.

Plasma total homocysteine concentrations in epileptic patients taking anticonvulsants.

N. Sakura, T. Eguchi, K. Ueda, 1997, Metabolism: clinical and experimental.

Erythrocyte galactokinase assay with high performance liquid chromatography.

N. Sakura, T. Eguchi, K. Ueda, 1993, Clinica chimica acta; international journal of clinical chemistry.

Elevated plasma bile acids in hypergalactosaemic neonates: a diagnostic clue to portosystemic shunts

N. Sakura, T. Eguchi, N. Mizoguchi, 1997, European Journal of Pediatrics.

Adrenocortical function in asthmatic children: low levels of adrenocortical hormones in children with persistent attacks

N. Sakura, K. Ueda, M. Fujitaka, 1997, European Journal of Pediatrics.

Clinical significance of cortisone and cortisone/cortisol ratio in evaluating children with adrenal diseases.

N. Sakura, K. Ueda, M. Fujitaka, 1996, Clinica chimica acta; international journal of clinical chemistry.

Congenital biliary atresia detected as a result of galactosemia screening by the Beutler method.

H. Yamaoka, N. Sakura, N. Mizoguchi, 2000, Clinica chimica acta; international journal of clinical chemistry.

Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblings.

Masao Kobayashi, T. Okuyama, M. Kosuga, 2013, Molecular genetics and metabolism.

Screening for primary immunodeficiencies associated with purine nucleoside phosphorylase deficiency or adenosine deaminase deficiency.

N. Sakura, H. Uchino, T. Usui, 1977, Journal of Laboratory and Clinical Medicine.

Kell Phenotypes in 15 Japanese Patients with Chronic Granulomatous Disease

N. Sakura, Kazuhiko Ito, T. Usui, 1979, Vox sanguinis.

Effect of betaine onS-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy

D. Rosenblatt, N. Sakura, T. Eguchi, 1994, Journal of Inherited Metabolic Disease.

Establishment of a practical enzymatic assay method for determination of isovaleryl-CoA dehydrogenase activity using high-performance liquid chromatography.

Masao Kobayashi, Y. Shigematsu, N. Sakura, 2005, Clinica chimica acta; international journal of clinical chemistry.

A new approach to detection of heterozygotes for adenosine deaminase deficiency: A hypothetical method

N. Sakura, H. Yabuuchi, T. Usui, 1981, European Journal of Pediatrics.

Screening for Adenosine Deaminase or Purine Nucleoside Phosphorylase Deficiency and a Report of Two Patients with Adenosine Deaminase Deficiency

N. Sakura, Kazuhiko Ito, T. Usui, 1981 .

Reversed-phase high-performance liquid chromatographic assay method for quantitating 6-mercaptopurine and its methylated and non-methylated metabolites in a single sample.

N. Sakura, S. Nishimura, K. Ueda, 1998, Journal of Chromatography B: Biomedical Sciences and Applications.

Comparative pharmacokinetics of oral 6‐mercaptopurine and intravenous 6‐mercaptopurine riboside in children

N. Sakura, S. Nishimura, K. Ueda, 2001, Pediatrics international : official journal of the Japan Pediatric Society.

Surgical intervention for patent ductus venosus

E. Hiyama, T. Sueda, N. Sakura, 2010, Pediatric Surgery International.

The C677T mutation in the methylenetetrahydrofolate reductase gene contributes to hyperhomocysteinemia in patients taking anticonvulsants

N. Sakura, N. Mizoguchi, H. Ono, 2002, Brain and Development.

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.

O. Ohara, T. Awaya, E. Naito, 2017, Molecular genetics and metabolism.

Measurement of histidase activity in human fingernail by reversed-phase HPLC.

N. Sakura, T. Eguchi, K. Ueda, 1993, Clinica chimica acta; international journal of clinical chemistry.

Manganese elevations in blood of children with congenital portosystemic shunts

N. Sakura, Y. Nishimura, N. Mizoguchi, 2001, European Journal of Pediatrics.

Serum concentrations of cortisone and cortisol in premature infants.

N. Sakura, K. Kidani, T. Sakano, 1997, Metabolism: clinical and experimental.

Development of a New Enzymatic Diagnosis Method for Very-long-chain Acyl-CoA Dehydrogenase Deficiency by Detecting 2-Hexadecenoyl-CoA Production and its Application in Tandem Mass Spectrometry-based Selective Screening and Newborn Screening in Japan

E. Naito, S. Okada, M. Tsumura, 2008, Pediatric Research.

A simple and rapid enzymatic assay for the branched-chain α-ketoacid dehydrogenase complex using high-performance liquid chromatography

N. Sakura, Y. Nishimura, H. Yofune, 2004, Journal of Inherited Metabolic Disease.

Monitoring of urinary acrolein concentration in patients receiving cyclophosphamide and ifosphamide.

N. Sakura, A. Namera, M. Yashiki, 2004, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Determination of acrolein by headspace solid-phase microextraction gas chromatography and mass spectrometry.

N. Sakura, M. Yashiki, T. Kojima, 2001, Journal of chromatography. B, Biomedical sciences and applications.

Determination of total homocysteine in dried blood spots using high performance liquid chromatography for homocystinuria newborn screening

N. Sakura, K. Ueda, H. Ono, 2004, Pediatrics international : official journal of the Japan Pediatric Society.

Stable-isotope dilution gas chromatography-mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening.

Yukie Tanaka, E. Naito, Y. Shigematsu, 2005, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency

M. Ohtsubo, S. Okada, M. Tsumura, 2010, Human Genetics.

Galactose metabolites in blood from neonates with and without hypergalactosaemia detected by mass screening

N. Sakura, T. Eguchi, N. Mizoguchi, 2000, European Journal of Pediatrics.

Hypergalactosaemia in a patient with portal-hepatic venous and hepatic arterio-venous shunts detected by neonatal screening

S. Yamamoto, K. Ueda, N. Sakura, 1993, European Journal of Pediatrics.

Congenital porto–left renal venous shunt as a cause of galactosaemia

N. Sakura, N. Mizoguchi, H. Ono, 2001, Journal of Inherited Metabolic Disease.

Alkaptonuria detected by neuroblastoma screening system

N. Sakura, Y. Kato, S. Yamaguchi, 1992, European Journal of Pediatrics.

Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type II.

H. Ariyasu, T. Akamizu, K. Kangawa, 2012, European journal of endocrinology.

Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.

T. Hashimoto, S. Miyazawa, S. Yamaguchi, 1988, The Journal of clinical investigation.

A CASE OF IMMUNODEFICIENCY WITH DECREASED SERUM IgA LEVELS AND IMPAIRED POLYCLONAL B CELL DIFFERENTIATION IN VITRO

E. Kittaka, N. Sakura, T. Suzawa, 1983, Acta Paediatrica Scandinavica.

Fetal diagnosis of galactosialidosis (protective protein/cathepsin A deficiency).

K. Ohama, H. Sakuraba, N. Sakura, 1997, Clinica chimica acta; international journal of clinical chemistry.

Limited effectiveness of betaine therapy for cystathionine β synthase deficiency

N. Sakura, A. Sakamoto, 2003, Pediatrics international : official journal of the Japan Pediatric Society.

Neurological features in Gaucher's disease during enzyme replacement therapy

N. Sakura, H. Ueda, N. Mizoguchi, 2001, Acta paediatrica.

Markedly Increased ω‐Oxidation of Valproate in Fulminant Hepatic Failure

N. Sakura, T. Kuhara, I. Matsumoto, 1990 .

Altered metabolic profiles of valproic acid in a patient with Reye's syndrome.

N. Sakura, T. Kuhara, I. Matsumoto, 1985, Clinica chimica acta; international journal of clinical chemistry.

The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry.

J. Sass, A. Shimizu, T. Nakanishi, 2002, Biochimica et biophysica acta.

Pharmacokinetics of etoposide with intravenous drug administration in children and adolescents

N. Sakura, S. Nishimura, K. Ueda, 2003, Pediatrics international : official journal of the Japan Pediatric Society.

Failure of cortisone acetate therapy in 21‐hydroxylase deficiency in early infancy

N. Sakura, K. Ueda, M. Fujitaka, 2001, Pediatrics International.

Clinical implications of duplicated mtDNA in Pearson syndrome.

Y. Goto, N. Sakura, H. Kihara, 2001, American journal of medical genetics.

The association between haematological manifestation and mtDNA deletions in Pearson syndrome

Y. Goto, I. Nonaka, N. Sakura, 1997, Journal of Inherited Metabolic Disease.

Severe lactic acidosis and neonatal death in Pearson syndrome

Y. Goto, I. Nishino, S. Horai, 1997, Journal of Inherited Metabolic Disease.

Circadian rhythms in plasma cortisone and cortisol and the cortisone/cortisol ratio.

N. Sakura, K. Ueda, M. Fujitaka, 1997, Clinica chimica acta; international journal of clinical chemistry.

Determination of acrolein in human urine by headspace gas chromatography and mass spectrometry.

M Yashiki, N. Sakura, S. Nishimura, 1998, Journal of chromatography. B, Biomedical sciences and applications.

Disodium cromoglycate use in children and adolescents with asthma: correlation between plasma concentrations and protective effects for various inhalation methods.

N. Sakura, K. Ueda, Y. Kato, 1999, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

Tyrosine in position 4 is the key amino acid for the binding of angiotensin II to human arteriolar receptor.

Y. Kiso, N. Sakura, M. Khosla, 1987, Endocrinologia japonica.

Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.

Y. Matsubara, Yasuyuki Suzuki, Y. Aoki, 2004, Molecular genetics and metabolism.

Co‐existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome‐like symptoms

Tadafumi Kato, Masashi Tanaka, N. Sakura, 2005, American journal of medical genetics. Part A.

Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy.

D. Rosenblatt, N. Sakura, T. Eguchi, 1994, Journal of inherited metabolic disease.

THE EFFICACY OF A LARGE VOLUME SPACER DEVICE FOR DELIVERY OF AEROSOL THERAPY BY DISODIUM CROMOGLYCATE

N. Sakura, H. Kawaguchi, Y. Kato, 2005 .

Yukie Tanaka, E. Naito, Y. Shigematsu, 2005, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Plasma total glutathione concentrations in healthy pediatric and adult subjects.

N. Sakura, H. Ono, A. Sakamoto, 2001, Clinica chimica acta; international journal of clinical chemistry.

Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria.

N. Sakura, K. Hiyama, T. Kuhara, 1986, Clinica chimica acta; international journal of clinical chemistry.

Attempt at treatment with tetrahydrobiopterin in combined deficiency of xanthine oxidase and sulphite oxidase

S. Yoshida, N. Sakura, K. Ueda, 1991, Journal of Inherited Metabolic Disease.

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.

O. Ohara, T. Awaya, E. Naito, 2017, Molecular genetics and metabolism.