Results 141 to 150 of about 1,641 (186)

Anyagcsere betegségek újszülöttkori szűrése és klinikai jellemzőik [PDF]

, 2011
Baráth Ákos, Gellén Balázs, Görög Marietta, Karg Eszter, Monostori Péter, Papp Ferenc, Rózsa Melinda, Túri Sándor, Wittmann Gyula   +8 more
core  

CRISPR/Cas9 gene therapy increases the risk of tumorigenesis in the mouse model of hereditary tyrosinemia type I. [PDF]

JHEP Rep
Chen T, Barzi M, Furey N, Kim HR, Pankowicz FP, Legras X, Elsea SH, Hurley AE, Yang D, Wheeler DA, Borowiak M, Bissig-Choisat B, Sumazin P, Bissig KD.   +13 more
europepmc   +1 more source

Diagnosing alkaptonuria-related nephropathy with urine albumin analysis. [PDF]

Pediatr Nephrol
Gülbahçe A, Muderrisoglu A.
europepmc   +1 more source

Ochronotic Deposition in Alkaptonuria: Semiquinone-Mediated Oxidative Coupling and Metabolic Drivers of Homogentisic Acid Accumulation. [PDF]

Int J Mol Sci
Grasso D, Balloni V, Baratto MC, Mucci A, Santucci A, Bernini A.   +5 more
europepmc   +1 more source

Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria. [PDF]

Mol Genet Metab
Rossignol F, Pan KS, Perry MB, Bryant JC, O'Brien KJ, Castillo IJ, Spears KR, Ferreira CR, Murphey MD, Minn MJ, Gahl WA, Introne WJ.   +11 more
europepmc   +1 more source

Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies. [PDF]

J Clin Med
Shakerdi AL, Nerney D, Molloy EJ, Knerr I.   +3 more
europepmc   +1 more source

Integrating computational engines to identify <i>TSPAN6</i> as a migrasome-associated target for immunotherapy sensitization. [PDF]

Front Immunol
Fang L, Pan H, Zhu Y.
europepmc   +1 more source

Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial. [PDF]

Mol Genet Metab
Spears KR, Rossignol F, Perry MB, Kayser MA, Suwannarat P, O'Brien KE, Bryant JC, Greenwood WF, Fuller S, Gahl WA, Introne WJ.   +10 more
europepmc   +1 more source

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood. [PDF]

Sisli Etfal Hastan Tip Bul
Gulten ZA, Cetincelik U, Guler A, Guler GB.   +3 more
europepmc   +1 more source

Anthropometric, Body Composition, and Nutritional Indicators with and without Nutritional Intervention during Nitisinone Therapy in Alkaptonuria. [PDF]

Nutrients
Ranganath LR, Khedr M, Milan AM, Davison AS, Hughes AT, Norman BP, Bygott H, Luangrath E, Judd S, Soulsby C, Olsson B, Imrich R.   +11 more
europepmc   +1 more source