Detalhe da pesquisa
1.
High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease.
N Engl J Med
; 390(7): 623-629, 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38354141
2.
Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy.
Clin Genet
; 102(4): 350-351, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35791803
3.
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net.
J Inherit Metab Dis
; 44(5): 1124-1135, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33844307
4.
The first European guidelines on phenylketonuria: Usefulness and implications for BH4 responsiveness testing.
J Inherit Metab Dis
; 43(2): 244-250, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31503351
5.
Bone mineral density is within normal range in most adult phenylketonuria patients.
J Inherit Metab Dis
; 43(2): 251-258, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587319
6.
Safety issues associated with dietary management in patients with hepatic glycogen storage disease.
Mol Genet Metab
; 125(1-2): 79-85, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30037503
7.
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.
J Inherit Metab Dis
; 41(6): 929-936, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29600495
8.
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.
Int J Neonatal Screen
; 9(4)2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38132825
9.
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
Int J Neonatal Screen
; 9(4)2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873847
10.
Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective.
Nutrients
; 14(19)2022 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36235614
11.
A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient-reported outcome measures.
JIMD Rep
; 63(1): 29-40, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35028269
12.
Dietary treatment in Dutch children with phenylketonuria: An inventory of associated social restrictions and eating problems.
Nutrition
; 97: 111576, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35248849
13.
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
Orphanet J Rare Dis
; 17(1): 423, 2022 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36471344
14.
Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid.
Pediatr Neurol
; 102: 62-66, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31371121
15.
Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients.
Nutrients
; 11(9)2019 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31461828
16.
Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI.
Eur J Paediatr Neurol
; 22(3): 536-540, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29274890
17.
Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
Orphanet J Rare Dis
; 18(1): 54, 2023 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36915141
18.
Cervical high-intensity intramedullary lesions without spinal cord compression in achondroplasia.
J Neurosurg Spine
; 6(4): 304-8, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17436917