Detalles de la búsqueda
1.
The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria.
J Inherit Metab Dis;
46(4): 586-594, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36843352
2.
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
J Inherit Metab Dis;
45(4): 848-861, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35460084
3.
Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.
Neurogenetics;
19(3): 145-149, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29754261
4.
Cryopreservation of ovarian tissue may be considered in young girls with galactosemia.
J Assist Reprod Genet;
35(7): 1209-1217, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29804175
5.
Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment.
Pediatr Endocrinol Rev;
12 Suppl 1: 185-91, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25345101
6.
Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics.
Eur J Med Genet;
66(3): 104698, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36649848
7.
Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long-term velmanase alfa treatment outcomes in patients with alpha-mannosidosis.
JIMD Rep;
64(2): 187-198, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36873087
8.
MCAD deficiency in Denmark.
Mol Genet Metab;
106(2): 175-88, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22542437
9.
Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.
Mol Genet Metab;
107(3): 281-93, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22795865
10.
Use of Molecular Genetic Analyses in Danish Routine Newborn Screening.
Int J Neonatal Screen;
7(3)2021 Jul 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-34449524
11.
Clinical and biochemical monitoring of patients with fatty acid oxidation disorders.
J Inherit Metab Dis;
33(5): 495-500, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20066495
12.
[Treatment of monogenic disorders with viral transduced haematopoietic stem cells].
Ugeskr Laeger;
182(46)2020 11 09.
Artículo
en Danés
| MEDLINE | ID: mdl-33215591
13.
Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose.
J Clin Endocrinol Metab;
104(9): 3610-3613, 2019 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30990523
14.
The impact of consanguinity on the frequency of inborn errors of metabolism.
Dan Med J;
65(10)2018 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-30269750
15.
Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1.
J Chromatogr B Analyt Technol Biomed Life Sci;
1072: 259-266, 2018 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29195145
16.
The impact of consanguinity on the frequency of inborn errors of metabolism.
Mol Genet Metab Rep;
15: 6-10, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-29387562
17.
L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency.
J Clin Endocrinol Metab;
103(12): 4580-4588, 2018 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30219858
18.
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Eur J Paediatr Neurol;
22(3): 369-379, 2018 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-29506905
19.
Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS.
JIMD Rep;
36: 29-33, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28092090
20.
Anesthesia for patients with alpha-mannosidosis--a case series of 10 patients.
Paediatr Anaesth;
21(12): 1269-70, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-22023421