Results 101 to 110 of about 4,948 (165)

Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort study. [PDF]

Mol Genet Metab Rep
Jain M, Shah M, Thakker KM, Rava A, Pelts Block A, Ndiba-Markey C, Pinto L.   +6 more
europepmc   +1 more source

High clinical burden of classical homocystinuria in the United States: a retrospective analysis. [PDF]

Orphanet J Rare Dis
Jain M, Shah M, Thakker KM, Rava A, Pelts Block A, Ndiba-Markey C, Pinto L.   +6 more
europepmc   +1 more source

Personalized Genome-Scale Modeling Reveals Metabolic Perturbations in Fibroblasts of Methylmalonic Aciduria Patients. [PDF]

J Inherit Metab Dis
Heinken A, Awada H, Zanotelli VRT, Froese DS, Guéant-Rodriguez RM, Guéant JL.   +5 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

A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre. [PDF]

Mol Genet Metab Rep
Al-Tai MR, Kareem AA, Saadi NW, Omran TB, Abdul Majeed BA, Ibrahim IF, Alattar LA.   +6 more
europepmc   +1 more source

Diverse Clinical manifestations of Cobalamin C Metabolism Disorders. [PDF]

Iran J Child Neurol
Eslamiyeh H.
europepmc   +1 more source

Sulcus fixation of a standard capsular tension ring in cataract surgery with capsular instability. [PDF]

Int J Ophthalmol
Eah KS, Lee H, Jeon YY, Chung HS, Lee H, Kim JY.   +5 more
europepmc   +1 more source

Birt-Hogg-Dube syndrome: A case report and case study of primary spontaneous pneumothorax caused by folliculin gene mutation. [PDF]

Medicine (Baltimore)
Shen X, Liao H.
europepmc   +1 more source