(Q52723154)

6 May 2018

title

Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations. (English)

1 reference

6 May 2018

congenital dyserythropoietic anemia

main subject

1 reference

congenital dyserythropoietic anemia type I

inferred from title

1 reference

1 reference

Tomas Ganz

9

0 references

author name string

Jessica A Meznarich

1

1 reference

6 May 2018

Lauren Draper

2

1 reference

6 May 2018

Robert D Christensen

3

1 reference

6 May 2018

Hassan M Yaish

4

1 reference

6 May 2018

Nick D Luem

5

1 reference

6 May 2018

Theodore J Pysher

6

1 reference

6 May 2018

Grace Jung

7

1 reference

6 May 2018

Elizabeta Nemeth

8

1 reference

6 May 2018

Diane M Ward

10

1 reference

6 May 2018

publication date

20 March 2018

1 reference

6 May 2018

Blood Cells, Molecules and Diseases

published in

1 reference

6 May 2018

Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.

25 August 2018

1 reference

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Immunoassay for human serum erythroferrone

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Diagnosis and management of congenital dyserythropoietic anemias

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Erythroferrone contributes to hepcidin suppression and iron overload in a mouse model of β-thalassemia

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Red blood cell distribution width: reference intervals for neonates.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Identification of erythroferrone as an erythroid regulator of iron metabolism

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Congenital dyserythropoietic anemias: molecular insights and diagnostic approach

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Ferroportin-mediated iron transport: expression and regulation

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Reference ranges for blood concentrations of nucleated red blood cells in neonates.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Reference ranges for hematocrit and blood hemoglobin concentration during the neonatal period: data from a multihospital health care system

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

The erythrocyte indices of neonates, defined using data from over 12,000 patients in a multihospital health care system

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension of the newborn

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Electron and light microscopic study of the erythroblasts of patients with congenital dyserythropoietic anemia

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Laboratory parameters identify familial haemophagocytic lymphohistiocytosis from other forms of paediatric haemophagocytosis

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5947870

Severe congenital dyserythropoietic anaemia type I: prenatal management, transfusion support and alpha-interferon therapy

30 November 2018

1 reference

12 December 2020

Congenital dyserythropoietic anemia type 1 with fetal onset of severe anemia

1 reference

12 December 2020

Interferon therapy in congenital dyserythropoietic anemia type I/II

1 reference

12 December 2020

1 reference

12 December 2020

Labial salivary gland biopsy in the investigation of neonatal hemochromatosis

1 reference

12 December 2020

A case of congenital dyserythropoietic anemia type 1 in a Japanese adult with a CDAN1 gene mutation and an inappropriately low serum hepcidin-25 level

1 reference

12 December 2020

Persistent pulmonary hypertension of the newborn associated with severe congenital anemia of various etiologies

1 reference

12 December 2020

Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity

1 reference

12 December 2020

10.1016/J.BCMD.2018.03.002

Identifiers

DOI

1 reference

6 May 2018

0 references

1 reference

6 May 2018