254 related articles for article (PubMed ID: 19904455)
41. Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China.
Yang CJ; Wei N; Li M; Xie K; Li JQ; Huang CG; Xiao YS; Liu WH; Chen XG
BMC Pediatr; 2018 Mar; 18(1):110. PubMed ID: 29534692
[TBL] [Abstract][Full Text] [Related]
42. Inborn errors of metabolism for child neurology residents.
Patterson MC
Semin Pediatr Neurol; 2011 Jun; 18(2):95-7. PubMed ID: 22036489
[TBL] [Abstract][Full Text] [Related]
43. Vaccination in children with inborn errors of metabolism.
Menni F; Chiarelli G; Sabatini C; Principi N; Esposito S
Vaccine; 2012 Nov; 30(50):7161-4. PubMed ID: 23085362
[TBL] [Abstract][Full Text] [Related]
44. A comprehensive screening method for detecting organic acidurias and other metabolic diseases in acutely sick infants and children.
Chalmers RA; Watts RW; Lawson AM
Ann Clin Biochem; 1977 May; 14(3):149-56. PubMed ID: 869495
[TBL] [Abstract][Full Text] [Related]
45. Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience.
Karam PE; Habbal MZ; Mikati MA; Zaatari GE; Cortas NK; Daher RT
Clin Biochem; 2013 Dec; 46(18):1787-92. PubMed ID: 23994778
[TBL] [Abstract][Full Text] [Related]
46. Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders.
Campistol J; Díez-Juan M; Callejón L; Fernandez-De Miguel A; Casado M; Garcia Cazorla A; Lozano R; Artuch R
Dev Med Child Neurol; 2016 Aug; 58(8):842-7. PubMed ID: 27038397
[TBL] [Abstract][Full Text] [Related]
47. Liver Disorders Caused by Inborn Errors of Metabolism.
Vakili O; Mafi A; Pourfarzam M
Endocr Metab Immune Disord Drug Targets; 2024; 24(2):194-207. PubMed ID: 37357514
[TBL] [Abstract][Full Text] [Related]
48. Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review.
Falsaperla R; Sciuto L; La Spina L; Sciuto S; Praticò AD; Ruggieri M
Metab Brain Dis; 2021 Dec; 36(8):2195-2203. PubMed ID: 34403026
[TBL] [Abstract][Full Text] [Related]
49. An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders.
Saudubray JM; Garcia-Cazorla A
Dialogues Clin Neurosci; 2018 Dec; 20(4):301-325. PubMed ID: 30936770
[TBL] [Abstract][Full Text] [Related]
50. Diagnosis of inherited metabolic disorders by selective metabolite testing: three years' experience at a tertiary care center in Rawalpindi.
Hafeez A; Ijaz A; Chaudhry N; Ali O; Khadim MT
J Pak Med Assoc; 2020 Jan; 70(1):53-57. PubMed ID: 31954023
[TBL] [Abstract][Full Text] [Related]
51. Facial dysmorphology and odontogenic tumor development associated with inborn errors of metabolism: a case report.
Bruckman KC; Napoli JA; Diecidue RJ; Gold L
J Oral Maxillofac Surg; 2015 Feb; 73(2):274-83. PubMed ID: 25579010
[TBL] [Abstract][Full Text] [Related]
52. The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.
Hope S; Johannessen CH; Aanonsen NO; Strømme P
Eur J Neurol; 2016 Jan; 23 Suppl 1():36-44. PubMed ID: 26563096
[TBL] [Abstract][Full Text] [Related]
53. Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.
Saudubray JM; Garcia-Cazorla À
Pediatr Clin North Am; 2018 Apr; 65(2):179-208. PubMed ID: 29502909
[TBL] [Abstract][Full Text] [Related]
54. Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives.
Wertheim-Tysarowska K; Gos M; Sykut-Cegielska J; Bal J
Dev Period Med; 2015; 19(4):413-31. PubMed ID: 26982749
[TBL] [Abstract][Full Text] [Related]
55. Epilepsy in Inborn Errors of Metabolism With Therapeutic Options.
Campistol J
Semin Pediatr Neurol; 2016 Nov; 23(4):321-331. PubMed ID: 28284393
[TBL] [Abstract][Full Text] [Related]
56. Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S; Vázquez-Mosquera ME; González-Vioque E; Álvarez JV; Chans R; Laranjeira F; Martins E; Ferreira AC; Avila-Alvarez A; Couce ML
Genes (Basel); 2021 Aug; 12(8):. PubMed ID: 34440436
[TBL] [Abstract][Full Text] [Related]
57. Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs.
Unal O; Oztürk-Hişmi B; Coşkun T; Tokatlı A; Dursun A; Sivri HS
Turk J Pediatr; 2012; 54(4):409-12. PubMed ID: 23692723
[TBL] [Abstract][Full Text] [Related]
58. Normal vitamin D levels and bone mineral density among children with inborn errors of metabolism consuming medical food-based diets.
Geiger KE; Koeller DM; Harding CO; Huntington KL; Gillingham MB
Nutr Res; 2016 Jan; 36(1):101-8. PubMed ID: 26773786
[TBL] [Abstract][Full Text] [Related]
59. Inborn Errors of Metabolism with Seizures: Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders.
Almannai M; El-Hattab AW
Pediatr Clin North Am; 2018 Apr; 65(2):279-299. PubMed ID: 29502914
[TBL] [Abstract][Full Text] [Related]
60. Exploiting epigenetics for the treatment of inborn errors of metabolism.
Rutten MGS; Rots MG; Oosterveer MH
J Inherit Metab Dis; 2020 Jan; 43(1):63-70. PubMed ID: 30916397
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]