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1.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr
; 24(1): 37, 2024 Jan 13.
Article
in English
| MEDLINE | ID: mdl-38216926
2.
Adult-onset presentation of a urea cycle disorder necessitating intensive care unit admission.
Can J Anaesth
; 67(8): 1094-1096, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32207085
3.
Complex II deficiency--a case report and review of the literature.
Am J Med Genet A
; 161A(2): 285-94, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23322652
4.
First report of type 2 diabetes mellitus in an adult with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency.
Endocrinol Diabetes Metab Case Rep
; 2023(1)2023 Mar 29.
Article
in English
| MEDLINE | ID: mdl-36988218
5.
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7.
Eur J Med Genet
; 66(1): 104657, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36334883
6.
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.
Patient
; 15(2): 171-185, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34282509
7.
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.
BMJ Open
; 12(2): e055664, 2022 Feb 22.
Article
in English
| MEDLINE | ID: mdl-35193919
8.
Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?
Mol Genet Metab
; 104(1-2): 107-11, 2011.
Article
in English
| MEDLINE | ID: mdl-21802329
9.
PTPN11 gene mutation associated with abnormal gonadal determination.
Am J Med Genet A
; 155A(5): 1136-9, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21465649
10.
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.
Mol Genet Metab Rep
; 27: 100763, 2021 Jun.
Article
in English
| MEDLINE | ID: mdl-33996492
11.
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Pediatrics
; 148(2)2021 08.
Article
in English
| MEDLINE | ID: mdl-34266901
12.
Pre-school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched-comparison study.
JIMD Rep
; 52(1): 43-54, 2020 Mar.
Article
in English
| MEDLINE | ID: mdl-32154059
13.
Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction.
J Am Heart Assoc
; 7(21): e009098, 2018 11 06.
Article
in English
| MEDLINE | ID: mdl-30571380
14.
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.
Orphanet J Rare Dis
; 11(1): 168, 2016 12 07.
Article
in English
| MEDLINE | ID: mdl-27927250
15.
Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient.
Pediatrics
; 133(4): e1092-6, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24664088
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