Detalhe da pesquisa
1.
Developments in evidence creation for treatments of inborn errors of metabolism.
J Inherit Metab Dis
; 44(1): 88-98, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32944978
2.
Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.
Int J Mol Sci
; 21(23)2020 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33266180
3.
Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.
Mol Genet Metab
; 114(3): 409-14, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25497838
4.
Surgical suite to pediatric intensive care unit handover protocol: implementation process and long-term sustainability.
J Nurs Care Qual
; 30(2): 113-20, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25426649
5.
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Mol Genet Metab
; 111(1): 16-25, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268530
6.
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.
JIMD Rep
; 60(1): 23-31, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258138
7.
Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex.
JIMD Rep
; 51(1): 30-44, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32071837
8.
Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices.
Orphanet J Rare Dis
; 14(1): 7, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30621767
9.
Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition.
Mol Genet Metab Rep
; 16: 57-63, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30094186
10.
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.
Orphanet J Rare Dis
; 11(1): 168, 2016 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27927250
11.
The effect of massage therapy on autonomic activity in critically ill children.
Evid Based Complement Alternat Med
; 2014: 656750, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25587344
12.
The association between major birth defects and preterm birth.
Matern Child Health J
; 13(2): 164-75, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18484173
13.
National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001.
Birth Defects Res A Clin Mol Teratol
; 76(11): 747-56, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17051527
14.
Reported multivitamin consumption and the occurrence of multiple congenital anomalies.
Am J Med Genet A
; 136(1): 1-7, 2005 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15937944
15.
High rates of neural tube defects in Ukraine.
Birth Defects Res A Clin Mol Teratol
; 70(6): 400-2, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15211709