165 related articles for article (PubMed ID: 32811506)
1. Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.
Gariani K; Nascimento M; Superti-Furga A; Tran C
Orphanet J Rare Dis; 2020 Aug; 15(1):210. PubMed ID: 32811506
[TBL] [Abstract][Full Text] [Related]
2. COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity.
Kahraman AB; Yıldız Y; Çıkı K; Erdal I; Akar HT; Dursun A; Tokatlı A; Sivri S
Mol Genet Metab; 2023 Jun; 139(2):107607. PubMed ID: 37201420
[TBL] [Abstract][Full Text] [Related]
3. Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases.
Cazzorla C; Del Rizzo M; Burgard P; Zanco C; Bordugo A; Burlina AB; Burlina AP
Mol Genet Metab; 2012 May; 106(1):25-30. PubMed ID: 22398241
[TBL] [Abstract][Full Text] [Related]
4. Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).
Ferreira EA; Buijs MJN; Wijngaard R; Daams JG; Datema MR; Engelen M; van Karnebeek CDM; Oud MM; Vaz FM; Wamelink MMC; van der Crabben SN; Langeveld M
Front Neurol; 2023; 14():1206106. PubMed ID: 37560457
[TBL] [Abstract][Full Text] [Related]
5. Diagnostics of Inherited Metabolic Diseases in Newborns with the Hyperammonemia Syndrome at the Onset of Disease (Pilot Study).
Kolchina AN; Yatsyshina EE; Malysheva LV; Ledentsova EE; Lidyaeva EE; Khaletskaya OV
Sovrem Tekhnologii Med; 2021; 13(1):59-64. PubMed ID: 34513067
[TBL] [Abstract][Full Text] [Related]
6. Genetic Diagnosis in a Cohort of Adult Patients with Inherited Metabolic Diseases: A Single-Center Experience.
Lenzini L; Carraro G; Avogaro A; Vitturi N
Biomolecules; 2022 Jun; 12(7):. PubMed ID: 35883476
[TBL] [Abstract][Full Text] [Related]
7. Inherited Metabolic Disorders in Adults: A view from Saudi Arabia.
Sulaiman RA; Al-Owain M
Eur J Med Genet; 2019 Nov; 62(11):103562. PubMed ID: 31610876
[TBL] [Abstract][Full Text] [Related]
8. COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience.
Altassan R; Sulaiman RA; Alfalah A; Alwagiat W; Megdad E; Alqasabi D; Handoom B; Almesned M; Al-Amri H; Alhassnan Z; Alsayed MA; Alzaidan H; Rahbeeni Z; Derar N; Al-Owain M; Albanyan E
Eur J Med Genet; 2022 Nov; 65(11):104602. PubMed ID: 36049607
[TBL] [Abstract][Full Text] [Related]
9. Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.
Siddiq S; Wilson BJ; Graham ID; Lamoureux M; Khangura SD; Tingley K; Tessier L; Chakraborty P; Coyle D; Dyack S; Gillis J; Greenberg C; Hayeems RZ; Jain-Ghai S; Kronick JB; Laberge AM; Little J; Mitchell JJ; Prasad C; Siriwardena K; Sparkes R; Speechley KN; Stockler S; Trakadis Y; Wafa S; Walia J; Wilson K; Yuskiv N; Potter BK;
Orphanet J Rare Dis; 2016 Dec; 11(1):168. PubMed ID: 27927250
[TBL] [Abstract][Full Text] [Related]
10. Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Tingley K; Lamoureux M; Pugliese M; Geraghty MT; Kronick JB; Potter BK; Coyle D; Wilson K; Kowalski M; Austin V; Brunel-Guitton C; Buhas D; Chan AKJ; Dyack S; Feigenbaum A; Giezen A; Goobie S; Greenberg CR; Ghai SJ; Inbar-Feigenberg M; Karp N; Kozenko M; Langley E; Lines M; Little J; MacKenzie J; Maranda B; Mercimek-Andrews S; Mohan C; Mhanni A; Mitchell G; Mitchell JJ; Nagy L; Napier M; Pender A; Potter M; Prasad C; Ratko S; Salvarinova R; Schulze A; Siriwardena K; Sondheimer N; Sparkes R; Stockler-Ipsiroglu S; Trakadis Y; Turner L; Van Karnebeek C; Vallance H; Vandersteen A; Walia J; Wilson A; Wilson BJ; Yu AC; Yuskiv N; Chakraborty P;
Orphanet J Rare Dis; 2020 Apr; 15(1):89. PubMed ID: 32276663
[TBL] [Abstract][Full Text] [Related]
11. What are the clues for an inherited metabolic disorder in Reye syndrome? A single Centre study of 58 children.
Goetz V; Yang DD; Lacaille F; Pelosi M; Angoulvant F; Brassier A; Arnoux JB; Schiff M; Heilbronner C; Salvador E; Debray D; Oualha M; Renolleau S; Girard M; de Lonlay P
Mol Genet Metab; 2022 Apr; 135(4):320-326. PubMed ID: 35221207
[TBL] [Abstract][Full Text] [Related]
12. U-IMD: the first Unified European registry for inherited metabolic diseases.
Opladen T; Gleich F; Kozich V; Scarpa M; Martinelli D; Schaefer F; Jeltsch K; Juliá-Palacios N; García-Cazorla Á; Dionisi-Vici C; Kölker S
Orphanet J Rare Dis; 2021 Feb; 16(1):95. PubMed ID: 33602304
[TBL] [Abstract][Full Text] [Related]
13. Respiratory manifestations in inherited metabolic diseases: 6-year single-center experience.
Ilarslan NEÇ; Gunay F; Cobanoglu N; Karaman M; Eminoglu FT
Pediatr Pulmonol; 2019 Aug; 54(8):1190-1199. PubMed ID: 31115165
[TBL] [Abstract][Full Text] [Related]
14. [Inherited metabolic disorders in pediatric emergency services].
Molina Gutiérrez MA; López López R; Morais López A; Bueno Barriocanal M; Martínez Ojinaga Nodal E; Alcolea Sánchez AM; García García S
An Pediatr (Barc); 2015 Jun; 82(6):404-11. PubMed ID: 25488173
[TBL] [Abstract][Full Text] [Related]
15. The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.
Tiivoja E; Reinson K; Muru K; Rähn K; Muhu K; Mauring L; Kahre T; Pajusalu S; Õunap K
JIMD Rep; 2022 Nov; 63(6):604-613. PubMed ID: 36341167
[TBL] [Abstract][Full Text] [Related]
16. Recent research on inherited metabolic diseases in children.
Li YJ; Kan X
Zhongguo Dang Dai Er Ke Za Zhi; 2022 Mar; 24(3):326-331. PubMed ID: 35351266
[TBL] [Abstract][Full Text] [Related]
17. Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King's College Hospital experience.
Hegarty R; Hadzic N; Gissen P; Dhawan A
Eur J Pediatr; 2015 Oct; 174(10):1387-92. PubMed ID: 25902754
[TBL] [Abstract][Full Text] [Related]
18. Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.
Brailova M; Clerfond G; Trésorier R; Minet-Quinard R; Durif J; Massoullié G; Pereira B; Sapin V; Eschalier R; Bouvier D
J Clin Med; 2020 Mar; 9(3):. PubMed ID: 32143453
[TBL] [Abstract][Full Text] [Related]
19. [Chronic Fatigue: When to Suspect an Inherited Metabolic Disease?].
Tankeu AT; Tran C
Praxis (Bern 1994); 2022 Jan; 110(1):38-43. PubMed ID: 34983209
[TBL] [Abstract][Full Text] [Related]
20. [Chronic Fatigue: When to Suspect an Inherited Metabolic Disease?].
Tankeu AT; Tran C
Praxis (Bern 1994); 2022 Jan; 110(1):1-6. PubMed ID: 34983208
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
