Search Results - "Tanphaichitr, V"

Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria by Glomglao, W., Treesucon, A., Roothumnong, E., Thongnoppakhun, W., Siraprapapat, P., Suwanthol, L., Sanpakit, K., Tanphaichitr, V. S.

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Direct detection for G6PD Bangkok and G6PD Bangkok Noi mutations in the families with chronic nonspherocytic hemolytic anemia (CNSHA) by Glomglao, W., Chansing, K., Treesucon, A., Siraprapapat, P., Thongnoppakhun, W., Sanpakit, K., Tanphaichitr, V. S.

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Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A by Tanphaichitr, V S, Sumboonnanonda, A, Ideguchi, H, Shayakul, C, Brugnara, C, Takao, M, Veerakul, G, Alper, S L

“…The AE1 gene encodes band 3 Cl-/HCO3- exchangers that are expressed both in the erythrocyte and in the acid-secreting, type A intercalated cells of the kidney…”
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Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency by TANPHAICHITR, V. S, SUVATTE, V, ISSARAGRISIL, S, MAHASANDANA, C, VEERAKUL, G, CHONGKOLWATANA, V, WAIYAWUTH, W, IDEGUCHI, H

“…We report the first successful use of BMT for the treatment of RBC pyruvate kinase (PK) deficiency in a boy who developed neonatal jaundice and severe…”
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Common origin of a rare β‐globin initiation codon mutation (ATG→AGG) in Asians by VIPRAKASIT, V., CHINCHANG, W., SUWANTHOL, L., TANPHAICHITR, V. S.

“…Summary In this report, we describe two Thai siblings presenting with mild hypochromic microcytic anaemia and splenomegaly since 2½ years of age. However, both…”
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Renal tubular function in β-thalassemia by SUMBOONNANONDA, A, MALASIT, P, TANPHAICHITR, V. S, ONG-AJYOOTH, S, SUNTHORNCHART, S, PATTANAKITSAKUL, S.-N, PETRARAT, S, ASSATEERAWATT, A, VONGJIRAD, A

“…Studies of the renal involvement in thalassemic syndromes have been varied and few. This study was designed to define the renal abnormalities associated with…”
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Malignant lymphoma in Thailand: Changes in the frequency of malignant lymphoma determined from a histopathologic and immunophenotypic analysis of 425 cases at Siriraj hospital by SUKPANICHNANT, S, SONAKUL, D, PIANKIJAGUM, A, WANACHIWANAWIN, W, VEERAKUL, G, MAHASANDANA, C, TANPHAICHITR, V. S, SUVATTE, V

“…Analysis of malignant lymphoma in a single institution at different periods of time can determine the changing status of the disease in the region. To compare…”
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Carnitine metabolism and human carnitine deficiency by Tanphaichitr, V, Leelahagul, P

“…Carnitine in the human body is derived from the intake of preformed dietary carnitine and biosynthesized carnitine, stemming from the metabolism of lysine and…”
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Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH‐cytochrome b5 reductase gene by Higasa, Koichiro, Manabe, Jun‐Ichi, Yubisui, Toshitsuga, Sumimoto, Hideki, Pung‐amritt, Parichat, Tanphaichitr, Varavarn S., Fukumaki, Yasuyuki

“…Hereditary methaemoglobinaemia, caused by deficiency of NADH‐cytochrome b5 reductase (b5R), has been classified into two types, an erythrocyte (type I) and a…”
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Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency by Pung-amritt, P, Poort, S R, Vos, H L, Bertina, R M, Mahasandana, C, Tanphaichitr, V S, Veerakul, G, Kankirawatana, S, Suvatte, V

“…Homozygous or compound heterozygous protein S (PS) deficiency is a very rare disorder in the anticoagulant system, that can lead to life-threatening thrombotic…”
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Homozygous protein S deficiency: 7-year follow-up by Mahasandana, C, Veerakul, G, Tanphaichitr, V S, Suvatte, V, Opartkiattikul, N, Hathaway, W E

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Causes of inadequate protein-energy status in thalassemic children by Tanphaichitr, V S, Visuthi, B, Tanphaichitr, V

“…Height-for-age, weight-for-age, triceps skinfold thickness (TST), mid upper arm circumference (MUAC), and mid upper arm muscle circumference (UAMC) were…”
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Molecular basis of β-thalassemia in Thailand: analysis of β-thalassemia mutations using the polymerase chain reaction by SUPAN FUCHAROEN, GOONNAPA FUCHAROEN, WIMONMAN SRIROONGRUENG, VICHAI LAOSOMBAT, ARUNEE JETSRISUPARB, SUTTHIPAN PRASATKAEW, TANPHAICHITR, V. S, VINAI SUVATTE, SOODSARKORN TUCHINDA, FUKUMAKI, Y

“…beta-Thalassemia mutations in 71 chromosomes of Thai patients from the northeast, the middle and the south of the country were investigated using dot blot…”
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Transplantation of Cord-Blood Stem Cells into a Patient with Severe Thalassemia by Issaragrisil, Surapol, Visuthisakchai, Sanan, Suvatte, Vinai, Tanphaichitr, Voravarn S, Chandanayingyong, Dasnayanee, Schreiner, Thomas, Kanokpongsakdi, Sujin, Siritanaratkul, Noppadol, Piankijagum, Anong

“…Several different kinds of thalassemia and hemoglobinopathy are prevalent in Southeast Asia. 1 , 2 The frequency of the α-thalassemias reaches 30 to 40 percent…”
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Recurrent A353V mutation in a Thai family with X-linked dyskeratosis congenita by VIPRAKASIT, Vip, TANPHAICHITR, Voravarn S

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Bone marrow, peripheral blood and cord blood stem cell transplantation in children: ten years' experience at Siriraj Hospital by Suvatte, V, Tanphaichitr, V S, Visuthisakchai, S, Mahasandana, C, Veerakul, G, Chongkolwatana, V, Chandanayingyong, D, Issaragrisil, S

“…Stem cell transplantations were performed in 69 children at Siriraj Hospital over a ten year period. The source of stem cells was bone marrow (60), peripheral…”
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Prevalence of hemoglobin E, alpha-thalassemia and glucose-6-phosphate dehydrogenase deficiency in 1,000 cord bloods studied in Bangkok by Tanphaichitr, V S, Mahasandana, C, Suvatte, V, Yodthong, S, Pung-amritt, P, Seeloem, J

“…Thalassemia hemoglobinopathies and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency are prevalent in Thailand. We studied the prevalence of these…”
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Acute haemolytic crisis in a Thai patient with homozygous haemoglobin Constant Spring (Hb CS/CS): a case report by Viprakasit, Vip, Veerakul, Gavivann, Sanpakit, Kleebsabai, Pongtanakul, Bunchoo, Chinchang, Worrawut, Tanphaichitr, Voravarn S.

“…Acute haemolysis associated with mild upper respiratory tract infection was observed in a Thai boy who presented with a rapid decline in haemoglobin (Hb)…”
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Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis by Merryweather-Clarke, Alison T., Cadet, Estelle, Bomford, Adrian, Capron, Dominique, Viprakasit, Vip, Miller, Anne, McHugh, Paddy J., Chapman, Roger W., Pointon, Jennifer J., Wimhurst, Victoria L.C., Livesey, Karen J., Tanphaichitr, Voravarn, Rochette, Jacques, Robson, Kathryn J.H.

“…Haemochromatosis (HH) is a clinically and genetically heterogeneous disease caused by inappropriate iron absorption. Most HH patients are homozygous for the…”
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Glucose-6-phosphate dehydrogenase deficiency in the newborn: its prevalence and relation to neonatal jaundice by Tanphaichitr, V S, Pung-amritt, P, Yodthong, S, Soongswang, J, Mahasandana, C, Suvatte, V

“…Glucose-6-phosphate dehydrogenase (G6PD) deficiency is prevalent in Thailand. This condition can cause acute hemolysis during oxidative stress and also severe…”
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