Search details
1.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis
; 42(2): 333-352, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30773687
2.
Oculomotor abnormalities in children with Niemann-Pick type C.
Mol Genet Metab
; 123(2): 159-168, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29191430
3.
Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III.
Cogn Neuropsychol
; 35(3-4): 120-147, 2018.
Article
in English
| MEDLINE | ID: mdl-29741470
4.
Gastrointestinal disturbances and their management in miglustat-treated patients.
J Inherit Metab Dis
; 34(5): 991-1001, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21779792
5.
Design and validation of a metabolic disorder resequencing microarray (BRUM1).
Hum Mutat
; 31(7): 858-65, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20578233
6.
Glutaric aciduria type 1 presenting with epilepsy.
Dev Med Child Neurol
; 51(3): 235-9, 2009 Mar.
Article
in English
| MEDLINE | ID: mdl-19260933
7.
The management of children with Hunter syndrome - a case study.
Br J Nurs
; 18(5): 321-2, 2009.
Article
in English
| MEDLINE | ID: mdl-19273994
8.
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
Orphanet J Rare Dis
; 14(1): 20, 2019 01 21.
Article
in English
| MEDLINE | ID: mdl-30665446
9.
Bone marrow transplantation in glycogen storage disease type 1b.
J Pediatr
; 152(2): 286-8, 2008 Feb.
Article
in English
| MEDLINE | ID: mdl-18206704
10.
A case of acute papillary muscle rupture in a child with campylobacter enteritis and citrullinaemia.
Intensive Care Med
; 33(12): 2214-5, 2007 Dec.
Article
in English
| MEDLINE | ID: mdl-17952406
11.
Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment.
BJPsych Bull
; 41(2): 109-114, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28400970
12.
Lipid profile in adult patients with Fabry disease - Ten-year follow up.
Mol Genet Metab Rep
; 13: 3-6, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-28736719
13.
Mortality in patients with Sanfilippo syndrome.
Orphanet J Rare Dis
; 12(1): 168, 2017 10 23.
Article
in English
| MEDLINE | ID: mdl-29061114
14.
The factors affecting lipid profile in adult patients with Mucopolysaccharidosis.
Mol Genet Metab Rep
; 12: 35-40, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28560179
15.
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Arch Dis Child
; 102(11): 1019-1029, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28468868
16.
Mortality in patients with morquio syndrome a.
JIMD Rep
; 15: 59-66, 2015.
Article
in English
| MEDLINE | ID: mdl-24718838
17.
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
Orphanet J Rare Dis
; 10: 36, 2015 Mar 27.
Article
in English
| MEDLINE | ID: mdl-25885911
18.
Case 36-2005: a woman with seizure, disturbed gait, and altered mental status.
N Engl J Med
; 354(10): 1096-7; author reply 1096-7, 2006 Mar 09.
Article
in English
| MEDLINE | ID: mdl-16525154
19.
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases.
Orphanet J Rare Dis
; 9: 173, 2014 Nov 18.
Article
in English
| MEDLINE | ID: mdl-25404155
20.
Methylmalonic acidaemia in a 7-month-old following maternal highly active antiretroviral therapy during pregnancy.
AIDS
; 21(13): 1835-6, 2007 Aug 20.
Article
in English
| MEDLINE | ID: mdl-17690593