Results 101 to 110 of about 4,846 (139)

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

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

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

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

Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]

Genes (Basel)
Hergenrother S, Husein M, Thompson C, Kalina E, Raina R.   +4 more
europepmc   +1 more source

Incidental maternal glutaric aciduria type I detection through newborn screening: A case report. [PDF]

Mol Genet Metab Rep
Grillet PE, Marelli C, Mondésert E, Francois-Heude MC, Roubertie A, Sabourdy F, Cristol JP, Acquaviva C, Badiou S.   +8 more
europepmc   +1 more source

A High-Fat Diet Induces Epigenetic 1-Carbon Metabolism, Homocystinuria, and Renal-Dependent HFpEF. [PDF]

Nutrients
Tyagi SC.
europepmc   +1 more source

Extended Lombardy's Neonatal Screening Dataset. [PDF]

Sci Data
Lopiano G, Alberti L, Cereda C, Cabitza F.   +3 more
europepmc   +1 more source

The Role of Metabolic Disorders in the Development of Waxy Flexibility in Patients with Catatonic Schizophrenia. [PDF]

Iran J Psychiatry
Abdollahi R.
europepmc   +1 more source