Results 1 to 10 of about 8,334 (133)

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris. [PDF]

J Inherit Metab Dis
ABSTRACT Arginase 1 deficiency (ARG1D) is the least common urea cycle disorder. Neonatal onset is rarely described, and hyperammonemic coma is less common in patients with ARG1D compared to other urea cycle disorders. In recent years, we diagnosed a high number of ARG1D patients in Mayotte, an insular (Comoro Islands) department of France.
De Bruyne A, Imbard A, Roux CJ, Chamouine A, Schwab C, Brassier A, Arnoux JB, Bouchereau J, Laroche-Raynaud C, Mekdade T, Gaschignard M, Berat CM, Pontoizeau C, Gobin-Limballe S, de Lonlay P, Benoist JF, Schiff M.   +16 more
europepmc   +2 more sources

A Young Man with Late-onset Ornithine Transcarbamylase Deficiency Successfully Treated with Prompt and Intensive Blood Purification Therapy for Severe Hyperammonemic Encephalopathy. [PDF]

Intern Med
Toba N, Sonoda T, Ishigaki S, Oda M, Nakamura Y, Kudo H, Nakajima S, Takikawa K, Ouchi H, Kato K, Kikuchi T, Nakaya I.   +11 more
europepmc   +1 more source

Nitrogen Scavengers: History, Clinical Considerations and Future Prospects. [PDF]

J Inherit Metab Dis
Klassa S, Häberle J.
europepmc   +1 more source

Golexanolone Attenuates Neuroinflammation, Fatigue, and Cognitive and Motor Impairment in Diverse Neuroinflammatory Disorders. [PDF]

Pharmaceuticals (Basel)
Llansola M, Mincheva G, Arenas YM, Izquierdo-Altarejos P, Pedrosa MA, Blackburn TP, Bäckström T, Scharschmidt BF, Doverskog M, Felipo V.   +9 more
europepmc   +1 more source

Hypercapnia-Induced Noncirrhotic Hyperammonemia (HIH): Unveiling an Unrecognized Association. [PDF]

Cureus
Alabi FO, Alabi CO, Alkhateeb HA, Kurian SJ, Romero C, Andersen NB.   +5 more
europepmc   +1 more source

Severe Neurological Sequelae and Radiological Findings in a Lost-to-Follow-Up Case of Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome. [PDF]

Cureus
Mohamed AS, Gupta A, Zakzouk RS.
europepmc   +1 more source

Hyperammonemia in Inherited Metabolic Diseases: A Case Report. [PDF]

Cureus
Frankevich N, Makieva M, Mikhailova O, Frankevich V.   +3 more
europepmc   +1 more source

The Role of Neuroinflammation in the Pathogenesis of Hepatic Encephalopathy. [PDF]

J Immunol Res
Rhodes K, Wang Y, DeMorrow S, Gurumallesh P.   +3 more
europepmc   +1 more source

Infarction or Metabolic Breakdown? Longitudinally Extensive Diffusion-Restricted Lesions from the Medulla Oblongata to the Lumbar Spinal Cord. [PDF]

Diagnostics (Basel)
Nakaya Y, Hayashi K, Sato M, Midori Y, Miura T, Hayashi H, Hayashi K, Kobayashi Y.   +7 more
europepmc   +1 more source

Why Physicians Delay in the Diagnosis and Treatment of Valproic Acid Toxicity. [PDF]

Cureus
Shahid M, Asghar A, Levine DL.
europepmc   +1 more source