两名兄弟姐妹因遗传性转钴胺素II缺乏导致新生儿巨幼细胞贫血。 - Suppr

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Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings.

作者信息

Hakami N, Neiman P E, Canellos G P, Lazerson J

出版信息

N Engl J Med. 1971 Nov 18;285(21):1163-70. doi: 10.1056/NEJM197111182852103.

DOI:10.1056/NEJM197111182852103

PMID:5096637

Abstract

摘要

相似文献

Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings.

N Engl J Med. 1971 Nov 18;285(21):1163-70. doi: 10.1056/NEJM197111182852103.

Combined deficiency anemia in chronic disease.

Ann Clin Lab Sci (1971). 1972 Mar-Apr;2(2):161-7.

Selective vitamin B12 malabsorption in two siblings.

Can Med Assoc J. 1974 Jan 5;110(1):53-5.

[On the symptomology of familial megaloblastic anemia with proteinuria].

Dtsch Med Wochenschr. 1967 Oct 13;92(41):1853-9. doi: 10.1055/s-0028-1106053.

[Megaloblastic anemia of pregnancy and puerperium caused by vitamin B 12 deficiency].

Matern Infanc (Sao Paulo). 1969 Jan-Mar;28(1):5-8.

Studies on the serum binding of vitamin B 12 in the newborn human infant.

Acta Paediatr Scand. 1969:Suppl 194:1+.

[Megaloblastic anaemia in childhood due to vitamin B12 deficiency, report of 3 cases of congenital selective vitamin B12 malabsorption (author's tranls)].

Klin Padiatr. 1976 Mar;188(2):97-103.

[Vitamin B 12 transport in the blood: abnormality of transcobalamine II].

Schweiz Med Wochenschr. 1974 Sep 28;104(39):1392-3.

Congenital pernicious anemia: effects on growth, brain, and absorption of B12.

Pediatrics. 1968 Jul;42(1):149-56.

Selective malabsorption of vitamin B12 in a Negro boy.

Scand J Haematol. 1973;11(2):153-7. doi: 10.1111/j.1600-0609.1973.tb00110.x.

引用本文的文献

From Pancytopenia to Hyperleukocytosis, an Unexpected Presentation of Immune Reconstitution Inflammatory Syndrome in an Infant with Methylmalonic Acidemia.

Children (Basel). 2024 Aug 14;11(8):990. doi: 10.3390/children11080990.

Transcobalamin deficiency - a rare genetic defect in transportation of cobalamin; case report.

Ann Hematol. 2024 Aug;103(8):3243-3246. doi: 10.1007/s00277-024-05878-7. Epub 2024 Jul 8.

Vitamin B12 status and folic acid supplementation influence mitochondrial heteroplasmy levels in mice.

PNAS Nexus. 2024 Mar 15;3(4):pgae116. doi: 10.1093/pnasnexus/pgae116. eCollection 2024 Apr.

Case report: Novel compound-heterozygous mutations in the gene identified in a chinese girl with transcobalamin deficiency.

Front Genet. 2022 Aug 12;13:951007. doi: 10.3389/fgene.2022.951007. eCollection 2022.

Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report.

Ital J Pediatr. 2021 Mar 8;47(1):54. doi: 10.1186/s13052-021-01007-6.

Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.

BMC Pediatr. 2020 Oct 6;20(1):460. doi: 10.1186/s12887-020-02357-6.

Transcobalamin deficiency: vitamin B deficiency with normal serum B levels.

BMJ Case Rep. 2019 Oct 30;12(10):e232319. doi: 10.1136/bcr-2019-232319.

Functional and phylogenetic characterization of noncanonical vitamin B-binding proteins in zebrafish suggests involvement in cobalamin transport.

J Biol Chem. 2018 Nov 9;293(45):17606-17621. doi: 10.1074/jbc.RA118.005323. Epub 2018 Sep 20.

Mice lacking the transcobalamin-vitamin B12 receptor, CD320, suffer from anemia and reproductive deficits when fed vitamin B12-deficient diet.

Hum Mol Genet. 2018 Oct 15;27(20):3627-3640. doi: 10.1093/hmg/ddy267.

Transcobalamin II Deficiency in Four Cases with Novel Mutations.

Turk J Haematol. 2015 Dec;32(4):317-22. doi: 10.4274/tjh.2014.0154. Epub 2015 Apr 27.

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Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings.

作者信息

Hakami N, Neiman P E, Canellos G P, Lazerson J

出版信息

N Engl J Med. 1971 Nov 18;285(21):1163-70. doi: 10.1056/NEJM197111182852103.

DOI:10.1056/NEJM197111182852103

PMID:5096637

Abstract

摘要

相似文献

Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings.

N Engl J Med. 1971 Nov 18;285(21):1163-70. doi: 10.1056/NEJM197111182852103.

Combined deficiency anemia in chronic disease.

Ann Clin Lab Sci (1971). 1972 Mar-Apr;2(2):161-7.

Selective vitamin B12 malabsorption in two siblings.

Can Med Assoc J. 1974 Jan 5;110(1):53-5.

[On the symptomology of familial megaloblastic anemia with proteinuria].

Dtsch Med Wochenschr. 1967 Oct 13;92(41):1853-9. doi: 10.1055/s-0028-1106053.

[Megaloblastic anemia of pregnancy and puerperium caused by vitamin B 12 deficiency].

Matern Infanc (Sao Paulo). 1969 Jan-Mar;28(1):5-8.

Studies on the serum binding of vitamin B 12 in the newborn human infant.

Acta Paediatr Scand. 1969:Suppl 194:1+.

[Megaloblastic anaemia in childhood due to vitamin B12 deficiency, report of 3 cases of congenital selective vitamin B12 malabsorption (author's tranls)].

Klin Padiatr. 1976 Mar;188(2):97-103.

[Vitamin B 12 transport in the blood: abnormality of transcobalamine II].

Schweiz Med Wochenschr. 1974 Sep 28;104(39):1392-3.

Congenital pernicious anemia: effects on growth, brain, and absorption of B12.

Pediatrics. 1968 Jul;42(1):149-56.

Selective malabsorption of vitamin B12 in a Negro boy.

Scand J Haematol. 1973;11(2):153-7. doi: 10.1111/j.1600-0609.1973.tb00110.x.

引用本文的文献

From Pancytopenia to Hyperleukocytosis, an Unexpected Presentation of Immune Reconstitution Inflammatory Syndrome in an Infant with Methylmalonic Acidemia.

Children (Basel). 2024 Aug 14;11(8):990. doi: 10.3390/children11080990.

Transcobalamin deficiency - a rare genetic defect in transportation of cobalamin; case report.

Ann Hematol. 2024 Aug;103(8):3243-3246. doi: 10.1007/s00277-024-05878-7. Epub 2024 Jul 8.

Vitamin B12 status and folic acid supplementation influence mitochondrial heteroplasmy levels in mice.

PNAS Nexus. 2024 Mar 15;3(4):pgae116. doi: 10.1093/pnasnexus/pgae116. eCollection 2024 Apr.

Case report: Novel compound-heterozygous mutations in the gene identified in a chinese girl with transcobalamin deficiency.

Front Genet. 2022 Aug 12;13:951007. doi: 10.3389/fgene.2022.951007. eCollection 2022.

Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report.

Ital J Pediatr. 2021 Mar 8;47(1):54. doi: 10.1186/s13052-021-01007-6.

Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.

BMC Pediatr. 2020 Oct 6;20(1):460. doi: 10.1186/s12887-020-02357-6.

Transcobalamin deficiency: vitamin B deficiency with normal serum B levels.

BMJ Case Rep. 2019 Oct 30;12(10):e232319. doi: 10.1136/bcr-2019-232319.

Functional and phylogenetic characterization of noncanonical vitamin B-binding proteins in zebrafish suggests involvement in cobalamin transport.

J Biol Chem. 2018 Nov 9;293(45):17606-17621. doi: 10.1074/jbc.RA118.005323. Epub 2018 Sep 20.

Mice lacking the transcobalamin-vitamin B12 receptor, CD320, suffer from anemia and reproductive deficits when fed vitamin B12-deficient diet.

Hum Mol Genet. 2018 Oct 15;27(20):3627-3640. doi: 10.1093/hmg/ddy267.

Transcobalamin II Deficiency in Four Cases with Novel Mutations.

Turk J Haematol. 2015 Dec;32(4):317-22. doi: 10.4274/tjh.2014.0154. Epub 2015 Apr 27.