Search details
1.
Nonsteroidal anti-inflammatory drugs as a targeted therapy for bone marrow failure in Ghosal hematodiaphyseal dysplasia.
Blood
; 141(13): 1553-1559, 2023 03 30.
Article
in English
| MEDLINE | ID: mdl-36574346
2.
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Mol Genet Metab
; 142(2): 108486, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38733639
3.
Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities.
Mol Genet Metab
; 140(4): 107735, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37989003
4.
Catalogue of inherited disorders found among the Irish Traveller population.
J Med Genet
; 55(4): 233-239, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29358271
5.
Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features.
Br J Haematol
; 196(3): e39-e42, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34549814
6.
Novel ocular findings and progressive intracranial calcification in a case of Revesz syndrome.
Br J Haematol
; 191(3): 317, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32966588
7.
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.
J Inherit Metab Dis
; 38(6): 1085-92, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-25917789
8.
Successful treatment with rituximab and mycophenolate mofetil of refractory autoimmune hemolytic anemia post-hematopoietic stem cell transplant for dyskeratosis congenita due to TINF2 mutation.
Pediatr Transplant
; 18(1): E22-4, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24168326
9.
Therapeutic plasma exchange in paediatric nephrology in Ireland.
Ir J Med Sci
; 2023 Nov 08.
Article
in English
| MEDLINE | ID: mdl-37940814
10.
Similar but different: identical pathology with differing outcome in 'Not-so-identical' twins.
Br J Haematol
; 178(1): 152-153, 2017 07.
Article
in English
| MEDLINE | ID: mdl-27102370
11.
Fontaine progeroid syndrome-A case report.
Clin Case Rep
; 10(9): e6291, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-36093452
12.
A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome.
Blood Adv
; 6(18): 5279-5284, 2022 09 27.
Article
in English
| MEDLINE | ID: mdl-35404999
13.
The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience.
JIMD Rep
; 61(1): 34-41, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34485015
14.
A rare cause of hypercalcemia.
Pediatr Nephrol
; 30(6): 919-24, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-24384606
15.
A retrospective study of myeloid leukaemia in children with Down syndrome in Ireland.
Ir J Med Sci
; 189(3): 979-984, 2020 Aug.
Article
in English
| MEDLINE | ID: mdl-32006388
16.
A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene.
Br J Haematol
; 144(1): 120-6, 2009 Jan.
Article
in English
| MEDLINE | ID: mdl-19006568
17.
Coagulation values in extreme premature infants.
Transfusion
; 54(8): 2134, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-25130336
18.
Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation.
Br J Haematol
; 159(5): 498, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-23094712
19.
Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion.
BMJ Case Rep
; 20152015 Feb 26.
Article
in English
| MEDLINE | ID: mdl-25721834
20.
Core medical skills training days: streamlining practical and resuscitation skills training in our local health board.
Future Healthc J
; 6(Suppl 1): 146, 2019 Mar.
Article
in English
| MEDLINE | ID: mdl-31363662