Results 61 to 70 of about 565,186 (153)

Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia

, 1992
A 9-year study of thiamine metabolism and cellular transport was performed in two patients with thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and sensorineural deafness, in their relatives, and in age-matched controls from ...
CASIROLA D, RINDI, GIANGUIDO, PATRINI, CESARE, LAFORENZA, UMBERTO, POGGI V, DE VIZIA B   +5 more
core   +1 more source

Megaloblastic anaemia, diabetes and deafness in a two-year old child [PDF]

, 2016
Megaloblastic anaemia in childhood usually occurs as a result of dietary folate deficiency or, rarely, congenital disorders of vitamin B12 metabolism. We present a 2-year-old girl with megaloblastic anaemia and insulin-dependent diabetes mellitus, both ...
Hartley, Patricia S, Berman, Peter, Davidson, Alan, Shuttleworth, Margaret H G   +3 more
core   +1 more source

Thiamine‐responsive megaloblastic anemia in an Iraqi girl [PDF]

American Journal of Hematology, 2014
Abbas Hashim, Abdulsalam, Nafila, Sabeeh, Zead Ismael, Ibrahim, Barbara J, Bain   +3 more
openaire   +2 more sources

Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia-Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation. [PDF]

J Pediatr Genet, 2022
Spehar Uroic A, Milenkovic D, De Franco E, Bilic E, Rojnic Putarek N, Krnic N.   +5 more
europepmc   +1 more source

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Monogenic diabetes syndromes: Locus-specific databases for Alstr\uf6m, Wolfram, and Thiamine-responsive megaloblastic anemia [PDF]

, 2017
\ua9 2017 Wiley Periodicals, Inc. We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease-
Rohayem J, Nunes V, Milan G, Williams D, Mlynarski W, Tillmann V, Hardy C, Favaretto F, Picard V, Lopez de Heredia M, Maffei P, Richens C, Arnold A, Astuti D, Parkinson K, Tranebjaerg L, Geberhiwot T, Marshall B, McAfferty S, Bueno GE, Paisey R, Fulton P, Sinnott R, Yu-Wai-Man P, Urano F, Hershey T, Semple R, Paquis-Flucklinger V, Dias R, Barrett TG, Chaussenot A, Zatyka M, Chen J-H, Sabir A   +33 more
core   +1 more source

ePresentation

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Thiamine-responsive anemia in DIDMOAD syndrome [see comments]

, 1989
Two children with the DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) developed a megaloblastic and sideroblastic anemia, neutropenia, and borderline thrombocytopenia. Plasma thiamine concentration was low in one patient
P. Marradi, N. Monetti, C. Patrini, PINELLI, Leonardo, C. Borgna Pignatti   +4 more
core   +1 more source

Thiamine-responsive megaloblastic anemia in two Ingush siblings with a homozygous <i>SLC19A2</i> c.1223+1G>A variant

Thiamine-responsive megaloblastic anemia (Rogers syndrome; OMIM #249270) is a rare autosomal recessive disorder caused by pathogenic variants in the SLC19A2 gene, which encodes the high-affinity thiamine transporter type 1.
Medina Kh. Gurzhikhanova, O. V. Goronkova, A. A. Maschan, M. A. Maschan, T. Yu. Salimova, E. V. Raykina   +5 more
core   +1 more source

Megaloblastic anaemia, diabetes and deafness in a 2-year-old child [PDF]

, 2005
Megaloblastic anaemia in childhood usually occurs as a result of dietary folate deficiency or, rarely, congenital disorders of vitamin B12 metabolism. We present a 2-year-old girl with megaloblastic anaemia and insulin-dependent diabetes mellitus, both ...
Hartley, Patricia S, Berman, Peter, Davidson, Alan, Shuttleworth, Margaret HG   +3 more
core