Search Results - "Suchi, M"

A Novel Autoinflammatory Disease Due to Homozygous Deletion of the IL-1RN locus; Effective Treatment with Recombinant IL-1 Receptor Antagonist by Verbsky, J, Reddy, S, Suchi, M, Broeckel, U, Hessner, M

“…[...]monocytes from this patient were resistant to apoptosis, whereas monocytes from a patient with NOMID were susceptible…”
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'Padhar regime' - a low-dose magnesium sulphate treatment for eclampsia by Mahajan, Niraj N, Thomas, Anita, Soni, Rajani N, Gaikwad, Nilima L, Jain, Suchi M

“…To determine the recurrent convulsion rate using low-dose magnesium sulphate regime in eclampsia and to identify toxicity and complications with clinical…”
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Determinants of the use of family planning methods among rural women in Plateau state, Nigeria by Shemu, Piritmwa L, Ahmad, Norliza, Lim, Poh Ying, Suchi, Plangshak M

“…This study aimed at determining the factors that influence family planning practice among rural women of Pankshin district in Plateau state, Nigeria. A…”
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Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs by SCHUCHMAN, E. H, SUCHI, M, TAKAHASHI, T, SANDHOFF, K, DESNICK, R. J

“…Two types of partial cDNAs encoding human acid sphingomyelinase (EC 3.1.4.12; ASM) were recently isolated from fibroblast and placental cDNA libraries…”
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DOTS expansion: will we reach the 2005 targets? [Stop TB Partnership] by Véron, L J, Blanc, L J, Suchi, M, Raviglione, M C

“…The global targets for tuberculosis control consist of detecting 70% of estimated infectious cases and curing 85% of these by 2005. Since the introduction of…”
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Tuberculosis drug resistance and treatment outcomes under DOTS settings in large cities in the Philippines by OHKADO, A, AGUIMAN, L, ADLAWAN, S, BARING, E, QUIRANTE, O, SUCHI, M, ENDO, S, FUJIKI, A, MORI, T

“…SETTING: Two large cities in the Philippines.OBJECTIVES: To describe the problems of drug-resistant tuberculosis (TB) in an urban setting, with special…”
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Recurrent ovarian malignancy presenting as cutaneous metastasis by Karpate, Shilpaja J, Samal, Swarnlata L, Jain, Suchi M

“…Cutaneous metastasis from ovarian carcinoma is relatively uncommon in clinical practice. We report the case of the woman who presented to us with clitoral…”
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Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts by Quintern, L.E., Schuchman, E.H., Levran, O., Suchi, M., Ferlinz, K., Reinke, H., Sandhoff, K., Desnick, R.J.

“…Acid sphingomyelinase (sphingomyelin phosphodiesterase, EC 3.1.4.12) was purified from human urine and 12 tryptic peptides were microsequenced (128 residues)…”
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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 by TAKAHASHI, T, SUCHI, M, DESNICK, R. J, TAKADA, G, SCHUCHMAN, E. H

“…The deficient activity of the human lysosomal hydrolase, acid sphingomyelinase (ASM, EC 3.1.4.12), results in the neuronopathic (Type A) and non-neuronopathic…”
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Pyrimidine metabolism in hereditary orotic aciduria by Sumi, S., Suchi, M., Kidouchi, K., Morishita, H., Ohba, S., Wada, Y.

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Retroviral-Mediated Transfer of the Human Acid Sphingomyelinase cDNA: Correction of the Metabolic Defect in Cultured Niemann-Pick Disease Cells by Suchi, Mariko, Dinur, Tama, Desnick, Robert J., Gatt, Shimon, Pereira, Lygia, Gilboa, Eli, Schuchman, Edward H.

“…Types A and B Niemann-Pick disease (NPD) result from inherited deficiencies of the lysosomal hydrolase, acid sphingomyelinase (ASM; sphingomyelin…”
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Preoperative Evaluation of Infants with Focal or Diffuse Congenital Hyperinsulinism by Intravenous Acute Insulin Response Tests and Selective Pancreatic Arterial Calcium Stimulation by Stanley, Charles A., Thornton, Paul S., Ganguly, Arupa, MacMullen, Courtney, Underwood, Patricia, Bhatia, Pooja, Steinkrauss, Linda, Wanner, Laura, Kaye, Robin, Ruchelli, Eduardo, Suchi, Mariko, Adzick, N. Scott

“…Infants with congenital hyperinsulinism often require pancreatectomy. Recessive mutations of the ATP-dependent plasma membrane potassium channel (KATP) genes,…”
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An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1) by SCHUCHMAN, E. H, LEVRAN, O, SUCHI, M, DESNICK, R. J

“…(DBO)…”
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Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism by Suchi, Mariko, MacMullen, Courtney M, Thornton, Paul S, Adzick, N Scott, Ganguly, Arupa, Ruchelli, Eduardo D, Stanley, Charles A

“…Congenital hyperinsulinism is a rare pancreatic endocrine cell disorder that has been categorized histologically into diffuse and focal forms. In focal…”
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Congenital hyperinsulinism: Intraoperative biopsy interpretation can direct the extent of pancreatectomy by SUCHI, Mariko, THORNTON, Paul S, ADZICK, N. Scott, MACMULLEN, Courtney, GANGULY, Arupa, STANLEY, Charles A, RUCHELLI, Eduardo D

“…Most cases of congenital hyperinsulinism (HI) manifest as either a diffuse or focal form. Diffuse HI is characterized by the presence of enlarged islet cell…”
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A screening method for dihydropyrimidine dehydrogenase deficiency with colorimetric detection of urinary uracil by Okajima, K, Yamamoto, T, Suchi, M, Wada, Y

“…Dihydropyrimidine dehydrogenase deficiency has a neurological involvement as a common symptom among reported cases. No major symptom except that exists for…”
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Molecular cloning of human UMP synthase by Suchi, M, Harada, N, Tsuboi, T, Asai, K, Okajima, K, Wada, Y, Takagi, Y

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Chromophobe Renal Cell Carcinoma in a Pediatric Living-Related Kidney Transplant Recipient by Greco, Andres J., Baluarte, Jorge H., Meyers, Kevin E.C., Sellers, Marty T., Suchi, Mariko, Biegel, Jaclyn A., Kaplan, Bernard S.

“…Renal cell carcinoma can occur in children who have received renal allografts from adults. Chromophobe renal cell carcinoma is a rare variant of renal…”
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Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations by Suchi, Mariko, MacMullen, Courtney, Thornton, Paul S, Ganguly, Arupa, Stanley, Charles A, Ruchelli, Eduardo D

“…The majority of the most severe cases of congenital hyperinsulinism (HI) are caused by defects in the beta-cell adenosine triphosphate (ATP)-sensitive…”
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Molecular characterization of histidinemia : identification of four missense mutations in the histidase gene by KAWAI, Yoko, MORIYAMA, Akihiko, ASAI, Kiyofumi, COLEMAN-CAMPBELL, Carrie M, SUMI, Satoshi, MORISHITA, Hideko, SUCHI, Mariko

“…Histidinemia (MIM235800) is characterized by elevated histidine in body fluids and decreased urocanic acid in blood and skin and results from histidase…”
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