Works matching DE "MEGALOBLASTIC anemia"

Results: 171

Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype.

Published in:

2006

By:

Liberman, M.;
Tartaglini, E.;
Fleming, J.;
Neufeld, E.;
Liberman, M C;
Fleming, J C;
Neufeld, E J

Publication type:

journal article

Nutritional interpretation of folic acid interventions.

Published in:

Nutrition Reviews, 2009, v. 67, n. 4, p. 235, doi. 10.1111/j.1753-4887.2009.00193.x

By:

Dary, Omar

Publication type:

Article

Is oral vitamin B12 as effective as IM vitamin B12 in treating B12 deficiency?

Published in:

Multi-Knowledge Electronic Comprehensive Journal For Education & Science Publications (MECSJ), 2020, n. 34, p. 1

By:

Shen, Khaled Amer;
Al Daher Al Khateeb, Samer

Publication type:

Article

Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood.

Published in:

Pediatric Diabetes, 2007, v. 8, n. 4, p. 239, doi. 10.1111/j.1399-5448.2007.00251.x

By:

Olsen, Birthe S;
Hahnemann, Johanne MD;
Schwartz, Marianne;
Østergaard, Elsebeth

Publication type:

Article

TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature.

Published in:

Pediatric Diabetes, 2002, v. 3, n. 4, p. 205, doi. 10.1034/j.1399-5448.2002.30407.x

By:

Ozdemir, Mehmet Akif;
Akcakus, Mustafa;
Kurtoglu, Selim;
Gunes, Tamer;
Torun, Yasemin Altuner

Publication type:

Article

ACUTE LUPUS HAEMOPHAGOCYTIC SYNDROME.

Published in:

2013

By:

EHSAN, AYESHA;
LONE, AYAZ;
RAJA, SUMERA FARMAN;
MIR, NIGHAT;
RIAZ, SABIHA

Publication type:

Case Study

Esophageal Leiomyoma in Patients with Megaloblastic Anemia.

Published in:

2014

By:

Coskun, Adil;
Unubol, Mustafa;
Yukselen, Ozden;
Yukselen, Vahit;
Aydin, Ahmet;
Şen, Serdar;
Karaoglu, Ali Onder

Publication type:

Case Study

Case Series of Megaloblastic Anemia due to Vitamin B12 Deficiency in Exclusively Breastfed Infants Born to Vegan Mothers in a Rural Area.

Published in:

Pravara Medical Review, 2015, v. 7, n. 1, p. 22

By:

Singh, V.;
Nigwekar, P.;
Dhyabar, A.;
Garg, A.;
Vaidya, S.;
Lonare, N.

Publication type:

Article

Cobalamin and Folic Acid Status in Relation to the Etiopathogenesis of Pancytopenia in Adults at a Tertiary Care Centre in North India.

Published in:

Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/707402

By:

Premkumar, M.;
Gupta, N.;
Singh, T.;
Velpandian, T.

Publication type:

Article

A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.

Published in:

International Journal of Pediatric Endocrinology, 2015, v. 2015, n. 1, p. 1, doi. 10.1186/s13633-015-0002-6

By:

Tahir, Sophia;
Leijssen, Lieve G. J.;
Sherif, Maha;
Pereira, Carla;
Morais, Anabela;
Hussain, Khalid

Publication type:

Article

Severe vitamin B12 deficiency resulting in pancytopenia, splenomegaly and leukoerythroblastosis.

Published in:

European Journal of Haematology, 2008, v. 80, n. 5, p. 448, doi. 10.1111/j.1600-0609.2008.01043.x

By:

Halfdanarson, Thorvardur R.;
Walker, James A.;
Litzow, Mark R.;
Hanson, Curtis A.

Publication type:

Article

Answer to Hypotonia: A Simple Hemogram.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 11, p. 930, doi. 10.1177/08830738050200111501

By:

Kanra, Güler;
Cetin, Mualla;
Unal, Sule;
Haliloglu, Goknur;
Akça, Tulay;
Akalan, Nejat;
Kara, Ates

Publication type:

Article

Mast Cell Activation Syndrome Masquerading as Agranulocytosis.

Published in:

Military Medicine, 2012, v. 177, n. 1, p. 113, doi. 10.7205/MILMED-D-11-00111

By:

Afrin, Lawrence B.

Publication type:

Article

Clinical and cytogenetic analysis of human anemias from Jammu region of Jammu and Kashmir state.

Published in:

Asian Journal of Transfusion Science, 2010, v. 4, n. 2, p. 99, doi. 10.4103/0973-6247.67031

By:

Upma;
Kumar, Parvinder;
Raina, T. R.;
Sharma, Kuldeep;
Gupta, Subash

Publication type:

Article

Inverted V sign: subacute combined degeneration of the spinal cord.

Published in:

2018

By:

Matsuura, H.;
Nakamura, T.

Publication type:

Case Study

Knuckle pigmentation and vitamin B<sub>12</sub> deficiency.

Published in:: 2017
Publication type:: Case Study

Refractory Pancytopenia and Megaloblastic Anemia due to Falciparum Malaria.

Published in:

Journal of Tropical Pediatrics, 2011, v. 57, n. 4, p. 283, doi. 10.1093/tropej/fmq090

By:

Aggarwal, Varun;
Maheshwari, Anu;
Rath, Bimbadhar;
Kumar, Praveen;
Basu, Srikanta

Publication type:

Article

Severe Vitamin B12 Deficiency in a Breast Fed Infant with Pancytopenia.

Published in:

Journal of Tropical Pediatrics, 2011, v. 57, n. 1, p. 69, doi. 10.1093/tropej/fmp039

By:

Citak, Funda Erkasar;
Citak, Elvan Caglar

Publication type:

Article

A Novel Mutation in the SLC19A2 Gene in a Turkish Female with Thiamine-responsive Megaloblastic Anemia Syndrome.

Published in:

Journal of Tropical Pediatrics, 2009, v. 55, n. 4, p. 265, doi. 10.1093/tropej/fmn060

By:

Yeşilkaya, Ediz;
Bideci, Aysun;
Temizkan, Meltem;
Kaya, Zühre;
Çamurdan, Orhun;
Koç, Altuğ;
Bozkaya, Davut;
Koç, Ülker;
Cinaz, Peyami

Publication type:

Article

TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 6, p. 331, doi. 10.1038/jhg.2009.34

By:

Häberle, Johannes;
Pauli, Silke;
Berning, Christoph;
Koch, Hans G.;
Linnebank, Michael

Publication type:

Article

Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 3, p. 262, doi. 10.1007/s10038-007-0110-0

By:

Bouchlaka, Chiraz;
Maktouf, Chokri;
Mahjoub, Bahri;
Ayadi, Abdelkarim;
Sfar, M.;
Sioud, Mahbouba;
Gueddich, Neji;
Belhadjali, Zouheir;
Rebaï, Ahmed;
Abdelhak, Sonia;
Dellagi, Koussay

Publication type:

Article

Two Cases of Primary Cold Agglutinin Disease Associated with Megaloblastic Anemia.

Published in:

Case Reports in Hematology, 2015, v. 2015, p. 1, doi. 10.1155/2015/913795

By:

Imashuku, Shinsaku;
Kudo, Naoko;
Takagishi, Katsushige;
Saigo, Katsuyasu

Publication type:

Article

Manejo Integral de un paciente con secuelas neuropsiquiátricas por consumo crónico de alcohol.

Published in:

Médicas UIS, 2011, v. 24, n. 1, p. 115

By:

Bermúdez, Constanza Mendoza;
Barrientos, María Paz Sepúlveda

Publication type:

Article

Clinico-Hematological Profile of Pancytopenia in North Karnataka-One Year Study.

Published in:

Indian Journal of Public Health Research & Development, 2013, v. 4, n. 2, p. 234, doi. 10.5958/j.0976-5506.4.2.050

By:

Bijjaragi, Seema;
Kulkarni, Vardendra G.;
Belagatti, Satish L.;
Kadam, Sunil S.

Publication type:

Article

An International Standard for whole blood folate: evaluation of a lyophilised haemolysate in an international collaborative study.

Published in:

Clinical Chemistry & Laboratory Medicine, 2004, v. 42, n. 5, p. 533, doi. 10.1515/CCLM.2004.090

By:

Thorpe, Susan J.;
Sands, Dawn;
Heath, Alan B.;
Hamilton, Malcolm S.;
Blackmore, Sheena;
Barrowcliffe, Trevor

Publication type:

Article

Pancytopenia: A Clinico Hematological Study.

Published in:

Journal of Laboratory Physicians, 2011, v. 3, n. 1, p. 15, doi. 10.4103/0974-2727.78555

By:

Gayathri, B. N.;
Rao, Kadam Satyanarayan

Publication type:

Article

Cost effective improvement in the protocol for detection of haemoglobin variants -a step forward in quality assurance.

Published in:

BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-192

By:

Ali, Natasha;
Khurshid, Mohammad

Publication type:

Article

Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2.

Published in:

Psychiatry & Clinical Neurosciences, 2014, v. 68, n. 6, p. 487, doi. 10.1111/pcn.12143

By:

Wood, Molly C.;
Tsiouris, John A.;
Velinov, Milen

Publication type:

Article

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.

Published in:

Nature Genetics, 1999, v. 22, n. 3, p. 300, doi. 10.1038/10372

By:

Labay, Valentina;
Raz, Tal;
Baron, Dana;
Mandel, Hanna;
Williams, Hawys;
Barrett, Timothy;
Szargel, Raymonde;
McDonald, Louise;
Shalata, Adel;
Nosaka, Kazuto;
Gregory, Simon;
Cohen, Nadine

Publication type:

Article

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.

Published in:

Nature Genetics, 1999, v. 22, n. 3, p. 305, doi. 10.1038/10379

By:

Fleming, Judith C.;
Tartaglini, Elena;
Steinkamp, Mara P.;
Schorderet, Daniel F.;
Cohen, Nadine;
Neufeld, Ellis J.

Publication type:

Article

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.

Published in:

Nature Genetics, 1999, v. 22, n. 3, p. 309, doi. 10.1038/10385

By:

Diaz, George A.;
Banikazemi, Maryam;
Oishi, Kimihiko;
Desnick, Robert J.;
Gelb, Bruce D.

Publication type:

Article

Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness.

Published in:

Turkish Journal of Pediatrics, 2009, v. 51, n. 3, p. 301

By:

Önal, Hasan;
Barış, Safa;
Özdil, Mine;
Yeşil, Gözde;
AItun, Gürkan;
Özyılmaz, İsa;
Aydın, Ahmet;
Celkan, Tiraje

Publication type:

Article

Megaloblastosis: From Morphos to Molecules.

Published in:

Medical Principles & Practice, 2005, v. 14, p. 2, doi. 10.1159/000086179

By:

Das, K. C.;
Das, Monisha;
Mohanty, D.;
Jadaon, M. M.;
Gupta, A.;
Marouf, R.;
Easow, S. K.

Publication type:

Article

Dorsal sural nerve conduction study in vitamin B<sub>12</sub> deficiency with megaloblastic anemia.

Published in:

Journal of the Peripheral Nervous System, 2006, v. 11, n. 3, p. 247, doi. 10.1111/j.1529-8027.2006.00095.x

By:

Turgut, Burhan;
Turgut, Nilda;
Akpinar, Seval;
Balci, Kemal;
Pamuk, Gülsüm E.;
Tekgündüz, Emre;
Demir, Muzaffer

Publication type:

Article

Autoimmune Polyglandular Syndrome Type 3 with Anorexia.

Published in:

Case Reports in Endocrinology, 2012, p. 1, doi. 10.1155/2012/657156

By:

Kahara, Toshio;
Wakakuri, Hitomi;
Takatsuji, Juri;
Motoo, Iori;
Shima, Kosuke R.;
Ishikura, Kazuhide;
Usuda, Rika;
Noda, Yatsugi

Publication type:

Article

Screening for Folate Producing Lactic Acid Bacteria from Colostrum and Characterization of their Probiotic Potential.

Published in:

Journal of Pure & Applied Microbiology, 2018, v. 12, n. 2, p. 765, doi. 10.22207/JPaM.12.2.37

By:

Bhagya, H. M.;
Renuka, B.;
Naika, Mahadeva;
Batra, H. V.;
Murali, H. S.

Publication type:

Article

Varied Clinico-haematological Presentation of Patients of Megaloblastic Anaemia with Deficiency of Vitamin B12 and Folic Acid in a Tertiary Care Center of Northern India.

Published in:

Journal of Clinical & Diagnostic Research, 2017, v. 11, n. 12, p. 6, doi. 10.7860/JCDR/2017/30253.10937

By:

BROWN, AMREEN;
TANDON, NISHI;
MEHDI, SYED RIAZ;
SIDDIQUI, ZEBA

Publication type:

Article

A Curious Case of Fever and Hyperpigmentation.

Published in:

2015

By:

CHAKRABARTI, SUBRATA

Publication type:

Case Study

Role of Absolute Reticulocyte Count in Evaluation of Pancytopenia-A Hospital Based Study.

Published in:

Journal of Clinical & Diagnostic Research, 2014, v. 8, n. 8, p. 1, doi. 10.7860/JCDR/2014/8949.4704

By:

POORANA PRIYA, P.;
SUBHASHREE, A. R.

Publication type:

Article

A Rare Case of Vitamin B12 Deficiency with Ascites.

Published in:

2014

By:

RAJSEKHAR, PUTTA;
MAHESHWAR REDDY, MUGANNAGARI;
VADDERA, SAMEERAJA;
RAJINI, G.;
TIKELI, VINIL

Publication type:

Case Study

Clinico-Haematological Profile of Megaloblastic Anaemia.

Published in:

Journal of Institute of Medicine Nepal (JIOMN), 2014, v. 36, n. 1, p. 38, doi. 10.59779/jiomnepal.570

By:

Hirachand, S.;
Singh, R.;
Gurung, P.;
Thapa, R.

Publication type:

Article

Comparative Assessment of Vitamin-B12, Folic Acid and Homocysteine Levels in Relation to p53 Expression in Megaloblastic Anemia.

Published in:

PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164559

By:

Yadav, Manish K.;
Manoli, Nandini M.;
Madhunapantula, SubbaRao V.

Publication type:

Article

Relationship between cobalamin and folate deficiencies and anemia in dogs.

Published in:

Journal of Veterinary Internal Medicine, 2019, v. 33, n. 1, p. 106, doi. 10.1111/jvim.15348

By:

Stanley, Emma;
Appleman, Elizabeth;
Schlag, Ariel;
Siegel, Andrea

Publication type:

Article

A Black Cohosh Extract Causes Hematologic and Biochemical Changes Consistent with a Functional Cobalamin Deficiency in Female B6C3F1/N Mice.

Published in:

Toxicologic Pathology, 2017, v. 45, n. 5, p. 614, doi. 10.1177/0192623317714343

By:

Cora, Michelle C.;
Gwinn, William;
Wilson, Ralph;
King, Debra;
Waidyanatha, Suramya;
Kissling, Grace E.;
Brar, Sukhdev S.;
Olivera, Dorian;
Blystone, Chad;
Travlos, Greg

Publication type:

Article

Thalassaemiás betegen észlelt anaemia perniciosa - a diagnózis nehézségei.

Published in:

Hungarian Medical Journal / Orvosi Hetilap, 2018, v. 159, n. 33, p. 1368, doi. 10.1556/650.2018.31097

By:

Kurdi, Barnabás;
Mezei, Zoltán András;
Kellner, Ádám;
Egyed, Miklós

Publication type:

Article

Acquired and inherited disorders of cobalamin and folate in children.

Published in:

British Journal of Haematology, 2006, v. 134, n. 2, p. 125, doi. 10.1111/j.1365-2141.2006.06133.x

By:

Michael Whitehead, V.

Publication type:

Article

Transcobalamin deficiency due to activation of an intra exonic cryptic splice site.

Published in:

British Journal of Haematology, 2003, v. 123, n. 5, p. 915, doi. 10.1046/j.1365-2141.2003.04685.x

By:

Namour, Fares;
Anne-Catherine Helfer, Fares;
Quadros, Edward V.;
Alberto, Jean-Marc;
Bibi, Ha M.;
Orning, Lars;
Rosenblatt, David S.;
Jean-Louis, Guéant

Publication type:

Article

Comment on: Bilateral macular hemorrhage due to megaloblastic anemia: A rare case report.

Published in:

2016

By:

Goel, Neha

Publication type:

Letter

Bilateral macular hemorrhage due to megaloblastic anemia: A rare case report.

Published in:

2016

By:

Vaggu, Sree Kumar;
Bhogadi, Preethi

Publication type:

journal article

Homocystinuria due to cystathionine β-synthase deficiency associated with megaloblastic anaemia.

Published in:

Journal of Internal Medicine, 2001, v. 250, n. 5, p. 453, doi. 10.1046/j.1365-2796.2001.00811.x

By:

Ishida, S.;
Isotani, H.;
Furukawa, K.;
Kuhara, T.

Publication type:

Article