Results 181 to 190 of about 10,319 (231)

A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement. [PDF]

Children (Basel)
Pavone P, Pappalardo XG, Scrofani F, Falsaperla R, Pizzo F, Polizzi A, Corsello A, Consentino MC, Parano E, Ruggieri M.   +9 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

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

Nutrients
Tyagi SC.
europepmc   +1 more source

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

, 2009
James D. Weisfeld‐Adams, Mark A. Morrissey, Brian Kirmse, Bobbie R. Salveson, Melissa Wasserstein, Peter J. McGuire, Sherlykutty Sunny, Jessica Cohen‐Pfeffer, Chunli Yu, Michele Caggana, George A. Díaz   +10 more
openalex   +1 more source

Ectopia lentis. [PDF]

Arq Bras Oftalmol
Borges L, Almeida NBM, Kara-Júnior N.
europepmc   +1 more source

Homocystinuria, a metabolic disease of late diagnosis in Peru

, 2015
Mario Cornejo‐Olivas, Vilma G. Chávez-Pasco, Miguel Inca‐Martinez, Diego Véliz-Otani, Pamela Mora-Alférez, Mario R. Velit-Salazar, Arantxa Sánchez-Boluarte, María Quiroga de Michelena, Pilar Mazzetti   +8 more
openalex   +1 more source

The common homocystinuria-associated P1173L variant of human methionine synthase impairs reductive methylation. [PDF]

J Biol Chem
Guha A, Banerjee R.
europepmc   +1 more source

The Reclassification of a <i>FBN1</i> Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation. [PDF]

Case Rep Med
Bouhamdani D, Allain V, Bouhamdani N, Ben Amor M.   +3 more
europepmc   +1 more source