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For: Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000;105:e10. [PMID: 10617747 DOI: 10.1542/peds.105.1.e10] [Citation(s) in RCA: 272] [Impact Index Per Article: 10.9] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/18/2022]  Open
Number Cited by Other Article(s)
1
Parviz S, Hooshyar D. Neonatal Nonketotic Hyperglycinemia: A Severe Case With Prenatal Indicators and Comprehensive Review of Recognition and Management. Clin Case Rep 2025;13:e70035. [PMID: 39776772 PMCID: PMC11705463 DOI: 10.1002/ccr3.70035] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/19/2024] [Revised: 11/17/2024] [Accepted: 12/15/2024] [Indexed: 01/11/2025]  Open
2
Kong W, Lu C, Wang L. Global birth prevalence of Pompe disease: A systematic review and meta-analysis. Neuroscience 2024;563:167-174. [PMID: 39424261 DOI: 10.1016/j.neuroscience.2024.09.043] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/21/2024] [Revised: 09/16/2024] [Accepted: 09/21/2024] [Indexed: 10/21/2024]
3
D'Alessio AM, Boffa I, De Stefano L, Soria LR, Brunetti-Pierri N. Liver gene transfer for metabolite detoxification in inherited metabolic diseases. FEBS Lett 2024;598:2372-2384. [PMID: 38884367 DOI: 10.1002/1873-3468.14957] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/20/2024] [Revised: 05/28/2024] [Accepted: 06/04/2024] [Indexed: 06/18/2024]
4
Torres-Sepúlveda MDR, Martínez de Villarreal LE, Villarreal-Pérez JZ, Ruiz Herrera MDC, Arredondo Vázquez PDC, Treviño-Morales AK. Outcome of Expanded Newborn Screening Among 194 000 Neonates at Northeast México. Glob Pediatr Health 2024;11:2333794X241280830. [PMID: 39315058 PMCID: PMC11418224 DOI: 10.1177/2333794x241280830] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/05/2023] [Revised: 06/24/2024] [Accepted: 08/20/2024] [Indexed: 09/25/2024]  Open
5
Javed M, Goswami DK, Raj H, Lohana K, Goswami B, Karim A, Warayo A, Farooqi P, Alamy H, Ullah ZO, Mohammad A, Farooqi SA, Ali H, Shuja D, Malik J, Baloch ZQ. Cardiac Manifestations in Inherited Metabolic Diseases. Cardiol Rev 2024:00045415-990000000-00299. [PMID: 38980048 DOI: 10.1097/crd.0000000000000753] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 07/10/2024]
6
Cuenca-Gómez JÁ, Lara-Rojas CM, Bonilla-López A. Cardiac manifestations in inherited metabolic diseases. Curr Probl Cardiol 2024;49:102587. [PMID: 38653442 DOI: 10.1016/j.cpcardiol.2024.102587] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/16/2024] [Accepted: 04/20/2024] [Indexed: 04/25/2024]
7
Abdelhamed W, El-Kassas M. Rare liver diseases in Egypt: Clinical and epidemiological characterization. Arab J Gastroenterol 2024;25:75-83. [PMID: 38228442 DOI: 10.1016/j.ajg.2023.12.002] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/23/2022] [Revised: 12/04/2023] [Accepted: 12/16/2023] [Indexed: 01/18/2024]
8
Saeed Z, Mashkani B, Alaei A, Varasteh A, Keyfi F. Determining the Reference Range of Amino Acids in Healthy Neonatal Blood Samples in Northeast Iran Using LC-MS/MS. Rep Biochem Mol Biol 2024;13:87-98. [PMID: 39582819 PMCID: PMC11580130 DOI: 10.61186/rbmb.13.1.87] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/24/2023] [Accepted: 12/23/2023] [Indexed: 11/26/2024]
9
Cordeiro RA, Rosa Neto NS, Giardini HAM. What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview. Adv Rheumatol 2024;64:22. [PMID: 38520029 DOI: 10.1186/s42358-024-00362-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/12/2024] [Accepted: 03/13/2024] [Indexed: 03/25/2024]  Open
10
Fishbein SRS, Evbuomwan EM, Dantas G. Conquering homocystinuria with engineered probiotics. Cell Host Microbe 2024;32:298-300. [PMID: 38484708 DOI: 10.1016/j.chom.2024.02.008] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/14/2024] [Accepted: 02/15/2024] [Indexed: 03/19/2024]
11
Chang SC, Bergamasco A, Bonnin M, Bisonó TA, Moride Y. A systematic review on the birth prevalence of metachromatic leukodystrophy. Orphanet J Rare Dis 2024;19:80. [PMID: 38383398 PMCID: PMC10880320 DOI: 10.1186/s13023-024-03044-w] [Citation(s) in RCA: 5] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/16/2023] [Accepted: 01/19/2024] [Indexed: 02/23/2024]  Open
12
Moutapam-Ngamby-Adriaansen Y, Maillot F, Labarthe F, Lioger B. Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review. Orphanet J Rare Dis 2024;19:65. [PMID: 38355710 PMCID: PMC10865644 DOI: 10.1186/s13023-024-03074-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/03/2023] [Accepted: 02/03/2024] [Indexed: 02/16/2024]  Open
13
Ago Y, Rintz E, Musini KS, Ma Z, Tomatsu S. Molecular Mechanisms in Pathophysiology of Mucopolysaccharidosis and Prospects for Innovative Therapy. Int J Mol Sci 2024;25:1113. [PMID: 38256186 PMCID: PMC10816168 DOI: 10.3390/ijms25021113] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/11/2023] [Revised: 01/09/2024] [Accepted: 01/10/2024] [Indexed: 01/24/2024]  Open
14
Moritz L, Schumann A, Pohl M, Köttgen A, Hannibal L, Spiekerkoetter U. A systematic review of metabolomic findings in adult and pediatric renal disease. Clin Biochem 2024;123:110703. [PMID: 38097032 DOI: 10.1016/j.clinbiochem.2023.110703] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/16/2023] [Revised: 12/03/2023] [Accepted: 12/07/2023] [Indexed: 12/29/2023]
15
Zelei T, Kovács S, Finn P, Nagy D, Sikirica V, Carlson KB, Vokó Z. Systematic literature review of the epidemiology of glycogen storage disease type 1a. J Pediatr Endocrinol Metab 2023;36:809-817. [PMID: 37615591 DOI: 10.1515/jpem-2023-0127] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/22/2023] [Accepted: 07/27/2023] [Indexed: 08/25/2023]
16
Vaidyanathan K, Member, IFCC-ISNS Task Force for Newborn Screening. Inborn Metabolic Disorders: The Winding Path Ahead, in the Road Less Traveled. Indian J Clin Biochem 2023;38:285-286. [PMID: 37234189 PMCID: PMC10205919 DOI: 10.1007/s12291-023-01135-2] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 05/27/2023]
17
Sugiyama Y, Murayama K. Acute Encephalopathy Caused by Inherited Metabolic Diseases. J Clin Med 2023;12:jcm12113797. [PMID: 37297992 DOI: 10.3390/jcm12113797] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/23/2023] [Revised: 05/22/2023] [Accepted: 05/26/2023] [Indexed: 06/12/2023]  Open
18
Carvalho S, Santos JI, Moreira L, Gonçalves M, David H, Matos L, Encarnação M, Alves S, Coutinho MF. Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses. Biomedicines 2023;11:biomedicines11041234. [PMID: 37189853 DOI: 10.3390/biomedicines11041234] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/08/2023] [Revised: 04/18/2023] [Accepted: 04/19/2023] [Indexed: 05/17/2023]  Open
19
Senarathne UD, Indika NLR, Jezela-Stanek A, Ciara E, Frye RE, Chen C, Stepien KM. Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders. Genes (Basel) 2023;14:genes14040803. [PMID: 37107561 PMCID: PMC10138025 DOI: 10.3390/genes14040803] [Citation(s) in RCA: 7] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/20/2023] [Revised: 03/22/2023] [Accepted: 03/22/2023] [Indexed: 03/29/2023]  Open
20
Epstein Weiss T, Erez O, Hazan I, Babiev AS, Staretz Chacham O. Characterization of pregnancy outcome of women with an offspring with inborn errors of metabolism: A population-based study. Front Genet 2022;13:1030361. [PMID: 36437917 PMCID: PMC9683332 DOI: 10.3389/fgene.2022.1030361] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/28/2022] [Accepted: 10/10/2022] [Indexed: 11/10/2022]  Open
21
Ning JJ, Li F, Li SQ. Clinical and genetic analysis of nonketotic hyperglycinemia: A case report. World J Clin Cases 2022;10:7982-7988. [PMID: 36158497 PMCID: PMC9372859 DOI: 10.12998/wjcc.v10.i22.7982] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/12/2022] [Revised: 05/19/2022] [Accepted: 07/06/2022] [Indexed: 02/06/2023]  Open
22
Bae YS, Yoon SH, Kim YS, Oh SP, Song WS, Cha JH, Kim MH. Suppression of exaggerated NMDAR activity by memantine treatment ameliorates neurological and behavioral deficits in aminopeptidase P1-deficient mice. EXPERIMENTAL & MOLECULAR MEDICINE 2022;54:1109-1124. [PMID: 35922532 PMCID: PMC9440093 DOI: 10.1038/s12276-022-00818-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 05/21/2021] [Revised: 05/12/2022] [Accepted: 05/17/2022] [Indexed: 11/25/2022]
23
Global Epidemiology of Gaucher Disease: an Updated Systematic Review and Meta-analysis. J Pediatr Hematol Oncol 2022;45:181-188. [PMID: 35867706 PMCID: PMC10115488 DOI: 10.1097/mph.0000000000002506] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/27/2022] [Accepted: 05/01/2022] [Indexed: 11/27/2022]
24
Almeida LS, Pereira C, Aanicai R, Schröder S, Bochinski T, Kaune A, Urzi A, Spohr TCLS, Viceconte N, Oppermann S, Alasel M, Ebadat S, Iftikhar S, Jasinge E, Elsayed SM, Tomoum H, Marzouk I, Jalan AB, Cerkauskaite A, Cerkauskiene R, Tkemaladze T, Nadeem AM, El Din Mahmoud IG, Mossad FA, Kamel M, Selim LA, Cheema HA, Paknia O, Cozma C, Juaristi-Manrique C, Guatibonza-Moreno P, Böttcher T, Vogel F, Pinto-Basto J, Bertoli-Avella A, Bauer P. An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients. Eur J Hum Genet 2022;30:1029-1035. [PMID: 35614200 PMCID: PMC9437014 DOI: 10.1038/s41431-022-01119-5] [Citation(s) in RCA: 18] [Impact Index Per Article: 6.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/16/2022] [Revised: 04/11/2022] [Accepted: 05/05/2022] [Indexed: 11/09/2022]  Open
25
Guilder LL, Kronick JB. Organic Acidemias. Pediatr Rev 2022;43:123-134. [PMID: 35229111 DOI: 10.1542/pir.2020-000562] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/24/2022]
26
Ramoser G, Caferri F, Radlinger B, Brunner‐Krainz M, Herbst S, Huemer M, Hufgard‐Leitner M, Kircher SG, Konstantopoulou V, Löscher W, Möslinger D, Plecko B, Spenger J, Stulnig T, Sunder‐Plassmann G, Wortmann S, Scholl‐Bürgi S, Karall D, Austrian IMD Registry Group. 100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021. J Inherit Metab Dis 2022;45:144-156. [PMID: 34595757 PMCID: PMC9297958 DOI: 10.1002/jimd.12442] [Citation(s) in RCA: 10] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/07/2021] [Revised: 09/27/2021] [Accepted: 09/28/2021] [Indexed: 12/29/2022]
27
Ouattara A, Resseguier N, Cano A, De Lonlay P, Arnoux JB, Brassier A, Schiff M, Pichard S, Fabre A, Hoebeke C, Guffon N, Fouilhoux A, Broué P, Touati G, Dobbelaere D, Mention K, Labarthe F, Tardieu M, De Parscau L, Feillet F, Bonnemains C, Kuster A, Labrune P, Barth M, Damaj L, Lamireau D, Berbis J, Auquier P, Chabrol B. Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet. J Pediatr 2022;242:192-200.e3. [PMID: 34788681 DOI: 10.1016/j.jpeds.2021.11.021] [Citation(s) in RCA: 6] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/12/2021] [Revised: 11/09/2021] [Accepted: 11/10/2021] [Indexed: 12/26/2022]
28
Quaio CRDAC, Moreira CM, Chung CH, Perazzio SF, Dutra AP, Kim CA. Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients. Mol Biol Rep 2022;49:3911-3918. [PMID: 35229241 DOI: 10.1007/s11033-022-07241-3] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/19/2021] [Accepted: 02/08/2022] [Indexed: 10/19/2022]
29
Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre. Eur J Pediatr 2022;181:3725-3732. [PMID: 35945291 PMCID: PMC9508208 DOI: 10.1007/s00431-022-04588-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/01/2022] [Revised: 07/14/2022] [Accepted: 08/05/2022] [Indexed: 11/25/2022]
30
Majid H, Jafri L, Ali ZZ, Afroze B. Is diagnosing patients with Organic Acidurias and Aminoacidopathies enough? Conundrums of a low middle-income country. Pak J Med Sci 2021;37:1896-1901. [PMID: 34912414 PMCID: PMC8613019 DOI: 10.12669/pjms.37.7.3887] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/05/2020] [Revised: 01/13/2021] [Accepted: 06/15/2021] [Indexed: 11/15/2022]  Open
31
Gold NB, Kritzer A, Weiner DL, Michelson KA. Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism. Pediatr Emerg Care 2021;37:e1154-e1159. [PMID: 31738301 DOI: 10.1097/pec.0000000000001936] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/26/2022]
32
Jin L, Han X, He F, Zhang C. Prevalence of methylmalonic acidemia among newborns and the clinical-suspected population: a meta-analyse. J Matern Fetal Neonatal Med 2021;35:8952-8967. [PMID: 34847798 DOI: 10.1080/14767058.2021.2008351] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/19/2022]
33
Kong W, Wu S, Zhang J, Lu C, Ding Y, Meng Y. Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis. J Pediatr Endocrinol Metab 2021;34:1225-1235. [PMID: 34271605 DOI: 10.1515/jpem-2020-0742] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/27/2020] [Accepted: 06/20/2021] [Indexed: 12/31/2022]
34
Kruger WD. How to fix a broken protein: restoring function to mutant human cystathionine β-synthase. Hum Genet 2021;141:1299-1308. [PMID: 34636997 DOI: 10.1007/s00439-021-02386-w] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/06/2021] [Accepted: 10/05/2021] [Indexed: 12/17/2022]
35
Deng K, Zhu J, Yu E, Xiang L, Yuan X, Yao Y, Li X, Liu H. Incidence of inborn errors of metabolism detected by tandem mass spectrometry in China: A census of over seven million newborns between 2016 and 2017. J Med Screen 2021;28:223-229. [PMID: 33241759 DOI: 10.1177/0969141320973690] [Citation(s) in RCA: 17] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/30/2022]
36
Sestini S, Paneghetti L, Lampe C, Betti G, Bond S, Bellettato CM, Maurizio S. Social and medical needs of rare metabolic patients: results from a MetabERN survey. Orphanet J Rare Dis 2021;16:336. [PMID: 34344397 PMCID: PMC8329639 DOI: 10.1186/s13023-021-01948-5] [Citation(s) in RCA: 14] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/26/2021] [Accepted: 07/09/2021] [Indexed: 12/12/2022]  Open
37
Bayrak H, Yıldız Y, Olgaç A, Kasapkara ÇS, Küçükcongar A, Zenciroğlu A, Yüksel D, Ceylaner S, Kılıç M. Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia. Metab Brain Dis 2021;36:1213-1222. [PMID: 33791923 DOI: 10.1007/s11011-021-00718-3] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/09/2020] [Accepted: 03/14/2021] [Indexed: 10/21/2022]
38
Prasad N, Hamosh A, Sponseller P. Orthopaedic Manifestations of Inborn Errors of Metabolism. JBJS Rev 2021;9:01874474-202107000-00003. [PMID: 34257233 DOI: 10.2106/jbjs.rvw.20.00245] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/14/2022]
39
Elabd HSA, Bastaki F, Khalifa M. Homozygous Novel Variants in the Glycine Decarboxylase Gene Associated with Nonketotic Hyperglycinemia in a Distinct Population. J Pediatr Genet 2021;12:23-31. [PMID: 36684550 PMCID: PMC9848757 DOI: 10.1055/s-0041-1729741] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/03/2020] [Accepted: 03/21/2021] [Indexed: 01/25/2023]
40
Zhao Z, Chen C, Sun X, Zhou D, Huang X, Dong H. Newborn screening for inherited metabolic diseases using tandem mass spectrometry in China: Outcome and cost-utility analysis. J Med Screen 2021;29:12-20. [PMID: 34102920 DOI: 10.1177/09691413211021621] [Citation(s) in RCA: 13] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/30/2022]
41
Diagnosis and management of secondary causes of steatohepatitis. J Hepatol 2021;74:1455-1471. [PMID: 33577920 DOI: 10.1016/j.jhep.2021.01.045] [Citation(s) in RCA: 70] [Impact Index Per Article: 17.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/13/2020] [Revised: 01/09/2021] [Accepted: 01/25/2021] [Indexed: 02/06/2023]
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Takano C, Grubbs BH, Ishige M, Ogawa E, Morioka I, Hayakawa S, Miki T. Clinical perspective on the use of human amniotic epithelial cells to treat congenital metabolic diseases with a focus on maple syrup urine disease. Stem Cells Transl Med 2021;10:829-835. [PMID: 33547875 PMCID: PMC8133340 DOI: 10.1002/sctm.20-0225] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/23/2020] [Revised: 12/18/2020] [Accepted: 12/20/2020] [Indexed: 12/16/2022]  Open
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Puckett Y, Mallorga-Hernández A, Montaño AM. Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities. Orphanet J Rare Dis 2021;16:241. [PMID: 34051828 PMCID: PMC8164808 DOI: 10.1186/s13023-021-01880-8] [Citation(s) in RCA: 36] [Impact Index Per Article: 9.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/05/2021] [Accepted: 05/21/2021] [Indexed: 12/03/2022]  Open
44
De Sabbata G, Boisgerault F, Guarnaccia C, Iaconcig A, Bortolussi G, Collaud F, Ronzitti G, Sola MS, Vidal P, Rouillon J, Charles S, Nicastro E, D'Antiga L, Ilyinskii P, Mingozzi F, Kishimoto TK, Muro AF. Long-term correction of ornithine transcarbamylase deficiency in Spf-Ash mice with a translationally optimized AAV vector. MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT 2021;20:169-180. [PMID: 33473356 PMCID: PMC7786024 DOI: 10.1016/j.omtm.2020.11.005] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 07/09/2020] [Accepted: 11/11/2020] [Indexed: 12/11/2022]
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Semyachkina AN, Voskoboeva EY, Nikolaeva EA, Zakharova EY. Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II). BMC Med Genomics 2021;14:71. [PMID: 33676511 PMCID: PMC7937197 DOI: 10.1186/s12920-021-00922-1] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/18/2020] [Accepted: 02/25/2021] [Indexed: 02/07/2023]  Open
46
Nasrallah F, Ben Chehida A, Kraoua I, Hadj-Taieb S, Sanhaji H, Tebib N, Feki M, Kaabachi N. Non-ketotic hyperglycinaemia: a frequent, but poorly diagnosed and managed genetic disorder in Tunisia. Arch Dis Child 2021;106:311. [PMID: 32404439 DOI: 10.1136/archdischild-2019-318774] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 04/23/2020] [Indexed: 11/03/2022]
47
Stepien KM, Kieć-Wilk B, Lampe C, Tangeraas T, Cefalo G, Belmatoug N, Francisco R, Del Toro M, Wagner L, Lauridsen AG, Sestini S, Weinhold N, Hahn A, Montanari C, Rovelli V, Bellettato CM, Paneghetti L, van Lingen C, Scarpa M. Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey. Front Med (Lausanne) 2021;8:652358. [PMID: 33738294 PMCID: PMC7962750 DOI: 10.3389/fmed.2021.652358] [Citation(s) in RCA: 37] [Impact Index Per Article: 9.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/12/2021] [Accepted: 02/08/2021] [Indexed: 12/11/2022]  Open
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Epidemiology of Mucopolysaccharidoses Update. Diagnostics (Basel) 2021;11:diagnostics11020273. [PMID: 33578874 PMCID: PMC7916572 DOI: 10.3390/diagnostics11020273] [Citation(s) in RCA: 73] [Impact Index Per Article: 18.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/05/2021] [Revised: 02/03/2021] [Accepted: 02/05/2021] [Indexed: 12/26/2022]  Open
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Mucopolysaccharidoses I and II: Brief Review of Therapeutic Options and Supportive/Palliative Therapies. BIOMED RESEARCH INTERNATIONAL 2020;2020:2408402. [PMID: 33344633 PMCID: PMC7732385 DOI: 10.1155/2020/2408402] [Citation(s) in RCA: 22] [Impact Index Per Article: 4.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 08/20/2020] [Revised: 11/08/2020] [Accepted: 11/21/2020] [Indexed: 12/30/2022]
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Hazan G, Hershkovitz E, Staretz-Chacham O. Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity communities. Orphanet J Rare Dis 2020;15:331. [PMID: 33239050 PMCID: PMC7687810 DOI: 10.1186/s13023-020-01578-3] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/12/2020] [Accepted: 10/13/2020] [Indexed: 11/29/2022]  Open
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