pyridoxine and Genetic Diseases, X-Chromosome Linked studies

pyridoxine and Genetic Diseases, X-Chromosome Linked

4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol: structure in first source
vitamin B6 : Any member of the group of pyridines that exhibit biological activity against vitamin B6 deficiency. Vitamin B6 deficiency is associated with microcytic anemia, electroencephalographic abnormalities, dermatitis with cheilosis (scaling on the lips and cracks at the corners of the mouth) and glossitis (swollen tongue), depression and confusion, and weakened immune function. Vitamin B6 consists of the vitamers pyridoxine, pyridoxal, and pyridoxamine and their respective 5'-phosphate esters (and includes their corresponding ionized and salt forms).

Research Excerpts

Excerpt	Relevance	Reference
"Sideroblastic anemias are a heterogeneous group of disorders characterized by anemia of varying severity and the presence of ringed sideroblasts in bone marrow."	1.42	Microcytic anemia in a pregnant woman: beyond iron deficiency. ( Fernández-Jiménez, MC; Morán-Jiménez, MJ; Moreno-Carralero, MI; Murga-Fernández, MJ; Rollón, N, 2015)

Research

Studies (43)

Timeframe	Studies, this research(%)	All Research%
pre-1990	30 (69.77)	18.7374
1990's	0 (0.00)	18.2507
2000's	3 (6.98)	29.6817
2010's	9 (20.93)	24.3611
2020's	1 (2.33)	2.80

Timeframe

Studies, this research(%)

All Research%

pre-1990

30 (69.77)

18.7374

1990's

0 (0.00)

18.2507

2000's

3 (6.98)

29.6817

2010's

9 (20.93)

24.3611

2020's

1 (2.33)

2.80

Authors

Authors	Studies
Morimoto, Y	1
Chonabayashi, K	1
Kawabata, H	1
Okubo, C	1
Yamasaki-Morita, M	1
Nishikawa, M	1
Narita, M	1
Inagaki, A	1
Nakanishi, K	1
Nagao, M	1
Takaori-Kondo, A	1
Yoshida, Y	1
Susanto, TAK	1
Bhattacharyya, R	1
Lee, JS	1
Gu, J	1
Yoo, HJ	1
Koh, Y	1
Kim, HK	1
Yu, HJ	1
Lee, YJ	1
Shim, JW	1
Kim, DS	1
Shim, JY	1
Park, MS	1
Woo, HY	1
Park, H	1
Jung, HL	1
Kwon, MJ	1
Garçon, L	1
Kannengiesser, C	1
Donker, AE	1
Raymakers, RA	1
Nieuwenhuis, HK	1
Coenen, MJ	1
Janssen, MC	1
MacKenzie, MA	1
Brons, PP	1
Swinkels, DW	1
Rollón, N	1
Fernández-Jiménez, MC	1
Moreno-Carralero, MI	1
Murga-Fernández, MJ	1
Morán-Jiménez, MJ	1
Fratz-Berilla, EJ	1
Breydo, L	1
Gouya, L	1
Puy, H	1
Uversky, VN	1
Ferreira, GC	1
Kucerova, J	1
Horvathova, M	1
Mojzikova, R	1
Belohlavkova, P	1
Cermak, J	1
Divoky, V	1
VOGLER, WR	1
MINGIOLI, ES	1
Furuyama, K	1
Harigae, H	1
Kinoshita, C	1
Shimada, T	1
Miyaoka, K	1
Kanda, C	1
Maruyama, Y	1
Shibahara, S	1
Sassa, S	1
Bekri, S	1
May, A	2
Cotter, PD	1
Al-Sabah, AI	1
Guo, X	1
Masters, GS	1
Bishop, DF	1
HARRIS, JW	4
WHITTINGTON, RM	1
WEISMAN, R	1
HORRIGAN, DL	3
DAWSON, DW	1
LEEMING, JT	1
OELBAUM, MH	1
PENGELLY, CD	1
WILKINSON, JF	1
SANCHEZ MEDAL, L	1
ELIZONDO, J	1
TORRES GALLARDO, J	1
GITTLER, C	1
JONES, NF	1
HUTT, MS	1
BISHOP, RC	1
BETHELL, FH	1
ERSLEV, AJ	1
LEAR, AA	1
CASTLE, WB	1
BICKERS, JN	1
BROWN, CL	1
SPRAGUE, CC	1
BONATI, B	1
CARLINI, G	1
LASAGNA, GC	1
BOTTOMLEY, SS	1
CAROLI, J	1
ANDRE, J	1
GARDNER, FH	2
NATHAN, DG	2
HAVARD, CW	1
STREIFF, F	1
LARCAN, A	1
PETERS, A	1
COMBEBIAS, JF	1
COCHRAN, WN	1
LELE, RD	3
SOLANKI, BR	1
BHAGWAT, RB	1
BEAUPRE, EM	1
GROWNEY, PM	1
CREPALDI, G	1
PARPAJOLA, A	1
ROATH, S	1
BOURNE, MS	2
ISRAUELS, MC	2
HERMANSKY, F	1
FRIEDMANN, B	1
BEDNAR, B	1
LOSOWSKY, MS	1
HALL, R	1
ELVES, MW	1
SAINANI, GS	1
SOAJI, MH	1
RAAB, SO	1
HAUT, A	1
CARTWRIGHT, GE	1
WINTROBE, MM	1
REDLEAF, PD	1
Percy, MJ	1
Cuthbert, RJ	1
McMullin, MF	1

Studies

Morimoto, Y

Chonabayashi, K

Kawabata, H

Okubo, C

Yamasaki-Morita, M

Nishikawa, M

Narita, M

Inagaki, A

Nakanishi, K

Nagao, M

Takaori-Kondo, A

Yoshida, Y

Susanto, TAK

Bhattacharyya, R

Lee, JS

Gu, J

Yoo, HJ

Koh, Y

Kim, HK

Yu, HJ

Lee, YJ

Shim, JW

Kim, DS

Shim, JY

Park, MS

Woo, HY

Park, H

Jung, HL

Kwon, MJ

Garçon, L

Kannengiesser, C

Donker, AE

Raymakers, RA

Nieuwenhuis, HK

Coenen, MJ

Janssen, MC

MacKenzie, MA

Brons, PP

Swinkels, DW

Rollón, N

Fernández-Jiménez, MC

Moreno-Carralero, MI

Murga-Fernández, MJ

Morán-Jiménez, MJ

Fratz-Berilla, EJ

Breydo, L

Gouya, L

Puy, H

Uversky, VN

Ferreira, GC

Kucerova, J

Horvathova, M

Mojzikova, R

Belohlavkova, P

Cermak, J

Divoky, V

VOGLER, WR

MINGIOLI, ES

Furuyama, K

Harigae, H

Kinoshita, C

Shimada, T

Miyaoka, K

Kanda, C

Maruyama, Y

Shibahara, S

Sassa, S

Bekri, S

May, A

Cotter, PD

Al-Sabah, AI

Guo, X

Masters, GS

Bishop, DF

HARRIS, JW

WHITTINGTON, RM

WEISMAN, R

HORRIGAN, DL

DAWSON, DW

LEEMING, JT

OELBAUM, MH

PENGELLY, CD

WILKINSON, JF

SANCHEZ MEDAL, L

ELIZONDO, J

TORRES GALLARDO, J

GITTLER, C

JONES, NF

HUTT, MS

BISHOP, RC

BETHELL, FH

ERSLEV, AJ

LEAR, AA

CASTLE, WB

BICKERS, JN

BROWN, CL

SPRAGUE, CC

BONATI, B

CARLINI, G

LASAGNA, GC

BOTTOMLEY, SS

CAROLI, J

ANDRE, J

GARDNER, FH

NATHAN, DG

HAVARD, CW

STREIFF, F

LARCAN, A

PETERS, A

COMBEBIAS, JF

COCHRAN, WN

LELE, RD

SOLANKI, BR

BHAGWAT, RB

BEAUPRE, EM

GROWNEY, PM

CREPALDI, G

PARPAJOLA, A

ROATH, S

BOURNE, MS

ISRAUELS, MC

HERMANSKY, F

FRIEDMANN, B

BEDNAR, B

LOSOWSKY, MS

HALL, R

ELVES, MW

SAINANI, GS

SOAJI, MH

RAAB, SO

HAUT, A

CARTWRIGHT, GE

WINTROBE, MM

REDLEAF, PD

Percy, MJ

Cuthbert, RJ

McMullin, MF

Reviews

Article	Year
PYRIDOXINE-RESPONSIVE ANEMIA: ANALYSIS OF 62 CASES. Advances in internal medicine, 1964, Volume: 12 Topics: Amino Acids; Anemia; Anemia, Hypochromic; Anemia, Macrocytic; Anemia, Sideroblastic; Drug Therapy; E	1964
PYRIDOXINE-RESPONSIVE ANEMIA--PROTOTYPE AND VARIATIONS ON THE THEME. Vitamins and hormones, 1964, Volume: 22 Topics: Anemia; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Humans; Pyridoxine	1964

Article

Year

PYRIDOXINE-RESPONSIVE ANEMIA: ANALYSIS OF 62 CASES.

Advances in internal medicine, 1964, Volume: 12

Topics: Amino Acids; Anemia; Anemia, Hypochromic; Anemia, Macrocytic; Anemia, Sideroblastic; Drug Therapy; E

1964

PYRIDOXINE-RESPONSIVE ANEMIA--PROTOTYPE AND VARIATIONS ON THE THEME.

Vitamins and hormones, 1964, Volume: 22

Topics: Anemia; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Humans; Pyridoxine

1964

Other Studies

41 other studies available for pyridoxine and Genetic Diseases, X-Chromosome Linked

Article	Year
Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia. Blood advances, 2022, 02-22, Volume: 6, Issue:4 Topics: 5-Aminolevulinate Synthetase; Aminolevulinic Acid; Anemia, Sideroblastic; Azacitidine; Female; Genet	2022
X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation. Journal of pediatric hematology/oncology, 2017, Volume: 39, Issue:5 Topics: 5-Aminolevulinate Synthetase; Adolescent; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Hemoglo	2017
A Novel Annals of clinical and laboratory science, 2017, Volume: 47, Issue:3 Topics: 5-Aminolevulinate Synthetase; Adolescent; Anemia, Sideroblastic; Female; Genetic Diseases, X-Linked;	2017
Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing. Annals of laboratory medicine, 2018, Volume: 38, Issue:4 Topics: 5-Aminolevulinate Synthetase; Anemia, Sideroblastic; Base Sequence; Bone Marrow; DNA Mutational Anal	2018
A double red cells population in a woman with a microcytic anemia. Blood, 2014, Feb-06, Volume: 123, Issue:6 Topics: 5-Aminolevulinate Synthetase; Adult; Anemia, Hypochromic; Anemia, Sideroblastic; Diagnosis, Differen	2014
X-linked sideroblastic anaemia due to ALAS₂ mutations in the Netherlands: a disease in disguise. The Netherlands journal of medicine, 2014, Volume: 72, Issue:4 Topics: 5-Aminolevulinate Synthetase; Adolescent; Adult; Age of Onset; Aged; Anemia, Sideroblastic; beta Car	2014
Microcytic anemia in a pregnant woman: beyond iron deficiency. International journal of hematology, 2015, Volume: 101, Issue:5 Topics: 5-Aminolevulinate Synthetase; Adult; Anemia, Sideroblastic; Female; Genetic Diseases, X-Linked; Hema	2015
Raab SO, Haut A, Cartwright GE, Wintrobe MM. Pyridoxine-responsive anemia. Blood. 1961;18(3):285-302. Blood, 2016, 05-19, Volume: 127, Issue:20 Topics: 5-Aminolevulinate Synthetase; Anemia, Sideroblastic; Child; Genetic Diseases, X-Linked; Germ-Line Mu	2016
Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients. Biochimica et biophysica acta. Molecular basis of disease, 2017, Volume: 1863, Issue:2 Topics: 5-Aminolevulinate Synthetase; Anemia, Sideroblastic; Enzyme Inhibitors; Genetic Diseases, X-Linked;	2017
New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. Acta haematologica, 2011, Volume: 125, Issue:4 Topics: 5-Aminolevulinate Synthetase; Adult; Anemia, Sideroblastic; Base Sequence; Genetic Diseases, X-Linke	2011
Heme synthesis in pyridoxine-responsive anemia. The New England journal of medicine, 1965, Aug-12, Volume: 273, Issue:7 Topics: Adult; Anemia, Sideroblastic; Erythrocyte Count; Genetic Diseases, X-Linked; Heme; Hemin; Humans; Ma	1965
Late-onset X-linked sideroblastic anemia following hemodialysis. Blood, 2003, Jun-01, Volume: 101, Issue:11 Topics: 5-Aminolevulinate Synthetase; Age of Onset; Aged; Aged, 80 and over; Anemia, Sideroblastic; DNA Muta	2003
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. Blood, 2003, Jul-15, Volume: 102, Issue:2 Topics: 5-Aminolevulinate Synthetase; Adult; Anemia, Sideroblastic; Base Sequence; Binding Sites; DNA; Eryth	2003
Pyridoxine responsive anemia in the human adult. Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1956, Volume: 91, Issue:3 Topics: Adult; Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Humans; Pyrid	1956
Pyridoxine-responsive hypochromic anemia. A report of two case. Lancet (London, England), 1961, Jul-01, Volume: 2, Issue:7192 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Pyridoxine; Vitamin	1961
Pyridoxine-responsive anemia: report of 2 cases in brothers and a review of the literature. Blood, 1961, Volume: 17 Topics: Anemia; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Humans; Male; Pyridoxine; Siblings; Vitam	1961
Observations on a case of pyridoxine-responsive anaemia. Lancet (London, England), 1961, Jun-03, Volume: 1, Issue:7188 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Pyridoxine; Vitamin	1961
Hereditary hypochromic anemia with transfusion hemosiderosis treated with pyridoxine: report of a case. The New England journal of medicine, 1959, Sep-03, Volume: 261 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Blood Transfusion; Genetic Diseases, X-Linked; H	1959
Pyridoxine-responsive anemia. The New England journal of medicine, 1960, Jun-16, Volume: 262 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Pyridoxine; Vitamin	1960
Pyridoxine responsive anemia. Blood, 1962, Volume: 19 Topics: Anemia; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Medical Records; Pyridoxine; Vitamin B 6	1962
On a case of "pyridoxine-responsive" anaemia. Acta haematologica, 1962, Volume: 28 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Medical Records; Pyr	1962
Pyridoxine-responsive anemia. JAMA, 1962, May-26, Volume: 180 Topics: Anemia; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Pyridoxine; Vitamin B 6	1962
[Massive generalized hemochromatosis associated with hypochromic hypersideremic anemia incompletely sensitive to pyridoxin]. La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris, 1962, May-14, Volume: 38 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Hemochromatosis; Pyr	1962
Hypochromic anemia and hemochromatosis--response to combined testosterone, pyridoxine, and liver extract therapy. Transactions of the American Clinical and Climatological Association, 1961, Volume: 73 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Hemochromatosis; Liv	1961
Hypochromic anemia and hemochromatosis. Response to combined testosterone, pyridoxine, and liver extract therapy. The American journal of the medical sciences, 1962, Volume: 243 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Hemochromatosis; Liv	1962
Pyridoxine-responsive anaemia. British medical journal, 1961, Dec-30, Volume: 2, Issue:5269 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; beta-Thalassemia; Genetic Diseases, X-Linked; Py	1961
[Critical study of the concept of pyridoxine-sensitive hypochromic anemia. (Apropos of a case)]. Annales medicales de Nancy, 1963, Volume: 2 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Pyridoxine	1963
An iron, pyridoxine and ascorbic acid combination in the treatment of hypochromic anemia. Journal of the South Carolina Medical Association, 1963, Volume: 59 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Ascorbic Acid; Genetic Diseases, X-Linked; Human	1963
PYRIDOXINE RESPONSIVE ANAEMIA. Journal of the Indian Medical Association, 1963, Aug-16, Volume: 41 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Humans; India; Pyrid	1963
PYRIDOXINE-RESPONSIVE ANEMIA WITH NEUROPATHY. Annals of internal medicine, 1963, Volume: 59 Topics: Anemia; Anemia, Sideroblastic; Black People; Genetic Diseases, X-Linked; Humans; Peripheral Nervous	1963
EXCRETION OF TRYPTOPHAN METABOLITES IN DIFFERENT FORMS OF HAEMOBLASTOSIS. Clinica chimica acta; international journal of clinical chemistry, 1964, Volume: 9 Topics: Cortisone; Cyclophosphamide; Genetic Diseases, X-Linked; Hodgkin Disease; Humans; Kynurenic Acid; Ky	1964
FERROKINETICS IN PYRIDOXINE-RESPONSIVE ANAEMIA. Acta haematologica, 1964, Volume: 32 Topics: Anemia; Anemia, Sideroblastic; Erythrocytes; Erythropoiesis; Genetic Diseases, X-Linked; Genetics, M	1964
NOTES AND COMMENTS ON PYRIDOXINE-RESPONSIVE ANEMIA AND THE ROLE OF ERYTHROCYTE MITOCHONDRIA IN IRON METABOLISM. Medicine, 1964, Volume: 43 Topics: Anemia; Anemia, Hypochromic; Anemia, Macrocytic; Anemia, Sideroblastic; Erythrocytes; Erythropoiesis	1964
PYRIDOXINE-RESPONSIVE ANEMIA. Folia haematologica (Leipzig, Germany : 1928), 1964, Volume: 82 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Drug Therapy; Genetic Diseases, X-Linked; Humans	1964
HEREDITARY SIDEROBLASTIC ANAEMIA. British journal of haematology, 1965, Volume: 11 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Bone Marrow Examination; Child; Chromium Isotope	1965
FAMILIAL PYRIDOXINE-RESPONSIVE ANAEMIA. British journal of haematology, 1965, Volume: 11 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Diagnosis, Differential; Drug Therapy; Genetic D	1965
PYRIDOXINE RESPONSIVE ANAEMIA. A REVIEW. The Journal of the Association of Physicians of India, 1965, Volume: 13 Topics: Amino Acids; Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Pyridox	1965
PYRIDOXINE RESPONSIVE ANEMIA. A CASE REPORT. Indian journal of medical sciences, 1965, Volume: 19 Topics: Anemia; Anemia, Sideroblastic; Drug Therapy; Genetic Diseases, X-Linked; Pyridoxine	1965
Pyridoxine-responsive anemia. Blood, 1961, Volume: 18 Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Pyridoxine; Vitamin	1961
Pyridoxine-responsive anemia in a patient receiving isoniazid. Diseases of the chest, 1962, Volume: 42 Topics: Anemia; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Isoniazid; Pyridoxine; Vitamin B 6	1962
A novel mutation, Ile289Thr, in the ALAS2 gene in a family with pyridoxine responsive sideroblastic anaemia. Journal of clinical pathology, 2006, Volume: 59, Issue:9 Topics: 5-Aminolevulinate Synthetase; Adult; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Humans; Male	2006

Article

Year

Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia.

Blood advances, 2022, 02-22, Volume: 6, Issue:4

Topics: 5-Aminolevulinate Synthetase; Aminolevulinic Acid; Anemia, Sideroblastic; Azacitidine; Female; Genet

2022

X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation.

Journal of pediatric hematology/oncology, 2017, Volume: 39, Issue:5

Topics: 5-Aminolevulinate Synthetase; Adolescent; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Hemoglo

2017

A Novel

Annals of clinical and laboratory science, 2017, Volume: 47, Issue:3

Topics: 5-Aminolevulinate Synthetase; Adolescent; Anemia, Sideroblastic; Female; Genetic Diseases, X-Linked;

2017

Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing.

Annals of laboratory medicine, 2018, Volume: 38, Issue:4

Topics: 5-Aminolevulinate Synthetase; Anemia, Sideroblastic; Base Sequence; Bone Marrow; DNA Mutational Anal

2018

A double red cells population in a woman with a microcytic anemia.

Blood, 2014, Feb-06, Volume: 123, Issue:6

Topics: 5-Aminolevulinate Synthetase; Adult; Anemia, Hypochromic; Anemia, Sideroblastic; Diagnosis, Differen

2014

X-linked sideroblastic anaemia due to ALAS₂ mutations in the Netherlands: a disease in disguise.

The Netherlands journal of medicine, 2014, Volume: 72, Issue:4

Topics: 5-Aminolevulinate Synthetase; Adolescent; Adult; Age of Onset; Aged; Anemia, Sideroblastic; beta Car

2014

Microcytic anemia in a pregnant woman: beyond iron deficiency.

International journal of hematology, 2015, Volume: 101, Issue:5

Topics: 5-Aminolevulinate Synthetase; Adult; Anemia, Sideroblastic; Female; Genetic Diseases, X-Linked; Hema

2015

Raab SO, Haut A, Cartwright GE, Wintrobe MM. Pyridoxine-responsive anemia. Blood. 1961;18(3):285-302.

Blood, 2016, 05-19, Volume: 127, Issue:20

Topics: 5-Aminolevulinate Synthetase; Anemia, Sideroblastic; Child; Genetic Diseases, X-Linked; Germ-Line Mu

2016

Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients.

Biochimica et biophysica acta. Molecular basis of disease, 2017, Volume: 1863, Issue:2

Topics: 5-Aminolevulinate Synthetase; Anemia, Sideroblastic; Enzyme Inhibitors; Genetic Diseases, X-Linked;

2017

New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine.

Acta haematologica, 2011, Volume: 125, Issue:4

Topics: 5-Aminolevulinate Synthetase; Adult; Anemia, Sideroblastic; Base Sequence; Genetic Diseases, X-Linke

2011

Heme synthesis in pyridoxine-responsive anemia.

The New England journal of medicine, 1965, Aug-12, Volume: 273, Issue:7

Topics: Adult; Anemia, Sideroblastic; Erythrocyte Count; Genetic Diseases, X-Linked; Heme; Hemin; Humans; Ma

1965

Late-onset X-linked sideroblastic anemia following hemodialysis.

Blood, 2003, Jun-01, Volume: 101, Issue:11

Topics: 5-Aminolevulinate Synthetase; Age of Onset; Aged; Aged, 80 and over; Anemia, Sideroblastic; DNA Muta

2003

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.

Blood, 2003, Jul-15, Volume: 102, Issue:2

Topics: 5-Aminolevulinate Synthetase; Adult; Anemia, Sideroblastic; Base Sequence; Binding Sites; DNA; Eryth

2003

Pyridoxine responsive anemia in the human adult.

Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1956, Volume: 91, Issue:3

Topics: Adult; Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Humans; Pyrid

1956

Pyridoxine-responsive hypochromic anemia. A report of two case.

Lancet (London, England), 1961, Jul-01, Volume: 2, Issue:7192

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Pyridoxine; Vitamin

1961

Pyridoxine-responsive anemia: report of 2 cases in brothers and a review of the literature.

Blood, 1961, Volume: 17

Topics: Anemia; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Humans; Male; Pyridoxine; Siblings; Vitam

1961

Observations on a case of pyridoxine-responsive anaemia.

Lancet (London, England), 1961, Jun-03, Volume: 1, Issue:7188

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Pyridoxine; Vitamin

1961

Hereditary hypochromic anemia with transfusion hemosiderosis treated with pyridoxine: report of a case.

The New England journal of medicine, 1959, Sep-03, Volume: 261

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Blood Transfusion; Genetic Diseases, X-Linked; H

1959

Pyridoxine-responsive anemia.

The New England journal of medicine, 1960, Jun-16, Volume: 262

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Pyridoxine; Vitamin

1960

Pyridoxine responsive anemia.

Blood, 1962, Volume: 19

Topics: Anemia; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Medical Records; Pyridoxine; Vitamin B 6

1962

On a case of "pyridoxine-responsive" anaemia.

Acta haematologica, 1962, Volume: 28

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Medical Records; Pyr

1962

Pyridoxine-responsive anemia.

JAMA, 1962, May-26, Volume: 180

Topics: Anemia; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Pyridoxine; Vitamin B 6

1962

[Massive generalized hemochromatosis associated with hypochromic hypersideremic anemia incompletely sensitive to pyridoxin].

La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris, 1962, May-14, Volume: 38

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Hemochromatosis; Pyr

1962

Hypochromic anemia and hemochromatosis--response to combined testosterone, pyridoxine, and liver extract therapy.

Transactions of the American Clinical and Climatological Association, 1961, Volume: 73

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Hemochromatosis; Liv

1961

Hypochromic anemia and hemochromatosis. Response to combined testosterone, pyridoxine, and liver extract therapy.

The American journal of the medical sciences, 1962, Volume: 243

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Hemochromatosis; Liv

1962

Pyridoxine-responsive anaemia.

British medical journal, 1961, Dec-30, Volume: 2, Issue:5269

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; beta-Thalassemia; Genetic Diseases, X-Linked; Py

1961

[Critical study of the concept of pyridoxine-sensitive hypochromic anemia. (Apropos of a case)].

Annales medicales de Nancy, 1963, Volume: 2

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Pyridoxine

1963

An iron, pyridoxine and ascorbic acid combination in the treatment of hypochromic anemia.

Journal of the South Carolina Medical Association, 1963, Volume: 59

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Ascorbic Acid; Genetic Diseases, X-Linked; Human

1963

PYRIDOXINE RESPONSIVE ANAEMIA.

Journal of the Indian Medical Association, 1963, Aug-16, Volume: 41

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Humans; India; Pyrid

1963

PYRIDOXINE-RESPONSIVE ANEMIA WITH NEUROPATHY.

Annals of internal medicine, 1963, Volume: 59

Topics: Anemia; Anemia, Sideroblastic; Black People; Genetic Diseases, X-Linked; Humans; Peripheral Nervous

1963

EXCRETION OF TRYPTOPHAN METABOLITES IN DIFFERENT FORMS OF HAEMOBLASTOSIS.

Clinica chimica acta; international journal of clinical chemistry, 1964, Volume: 9

Topics: Cortisone; Cyclophosphamide; Genetic Diseases, X-Linked; Hodgkin Disease; Humans; Kynurenic Acid; Ky

1964

FERROKINETICS IN PYRIDOXINE-RESPONSIVE ANAEMIA.

Acta haematologica, 1964, Volume: 32

Topics: Anemia; Anemia, Sideroblastic; Erythrocytes; Erythropoiesis; Genetic Diseases, X-Linked; Genetics, M

1964

NOTES AND COMMENTS ON PYRIDOXINE-RESPONSIVE ANEMIA AND THE ROLE OF ERYTHROCYTE MITOCHONDRIA IN IRON METABOLISM.

Medicine, 1964, Volume: 43

Topics: Anemia; Anemia, Hypochromic; Anemia, Macrocytic; Anemia, Sideroblastic; Erythrocytes; Erythropoiesis

1964

PYRIDOXINE-RESPONSIVE ANEMIA.

Folia haematologica (Leipzig, Germany : 1928), 1964, Volume: 82

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Drug Therapy; Genetic Diseases, X-Linked; Humans

1964

HEREDITARY SIDEROBLASTIC ANAEMIA.

British journal of haematology, 1965, Volume: 11

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Bone Marrow Examination; Child; Chromium Isotope

1965

FAMILIAL PYRIDOXINE-RESPONSIVE ANAEMIA.

British journal of haematology, 1965, Volume: 11

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Diagnosis, Differential; Drug Therapy; Genetic D

1965

PYRIDOXINE RESPONSIVE ANAEMIA. A REVIEW.

The Journal of the Association of Physicians of India, 1965, Volume: 13

Topics: Amino Acids; Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Pyridox

1965

PYRIDOXINE RESPONSIVE ANEMIA. A CASE REPORT.

Indian journal of medical sciences, 1965, Volume: 19

Topics: Anemia; Anemia, Sideroblastic; Drug Therapy; Genetic Diseases, X-Linked; Pyridoxine

1965

Pyridoxine-responsive anemia.

Blood, 1961, Volume: 18

Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Pyridoxine; Vitamin

1961

Pyridoxine-responsive anemia in a patient receiving isoniazid.

Diseases of the chest, 1962, Volume: 42

Topics: Anemia; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Isoniazid; Pyridoxine; Vitamin B 6

1962

A novel mutation, Ile289Thr, in the ALAS2 gene in a family with pyridoxine responsive sideroblastic anaemia.

Journal of clinical pathology, 2006, Volume: 59, Issue:9

Topics: 5-Aminolevulinate Synthetase; Adult; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Humans; Male

2006