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About 6 results

ALLMedicine™ Aminoacylase 1 Deficiency Center

Research & Reviews  3 results

Four years follow up of ACY1 deficient patient and pedigree study.
https://doi.org/10.1016/j.braindev.2018.03.009
Brain & Development; Alessandrì MG, Milone R et. al.

Apr 14th, 2018 - Aminoacylase 1 deficiency (ACY1D) is a rare inborn error of metabolism characterized by increased urinary excretion of N-acetylated amino acids. Clinical phenotypes of 15 known patients with ACY1 deficiency have been described up to now. Findings ...

Aminoacylase 1 deficiency associated with autistic behavior.
https://doi.org/10.1007/s10545-010-9089-3
Journal of Inherited Metabolic Disease; Tylki-Szymanska A, Gradowska W et. al.

May 18th, 2010 - Aminoacylase 1 (ACY1) deficiency is a recently described inborn error of metabolism. Most of the patients reported so far have presented with rather heterogeneous neurologic symptoms. At this moment, it is not clear whether ACY1 deficiency represe...

Aminoacylase 1 deficiency
https://rarediseases.info.nih.gov/diseases/9741/aminoacylase-1-deficiency

Jul 31st, 2008 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137754 Definition An inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid ...

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Clinicaltrials.gov  3 results

Four years follow up of ACY1 deficient patient and pedigree study.
https://doi.org/10.1016/j.braindev.2018.03.009
Brain & Development; Alessandrì MG, Milone R et. al.

Apr 14th, 2018 - Aminoacylase 1 deficiency (ACY1D) is a rare inborn error of metabolism characterized by increased urinary excretion of N-acetylated amino acids. Clinical phenotypes of 15 known patients with ACY1 deficiency have been described up to now. Findings ...

Aminoacylase 1 deficiency associated with autistic behavior.
https://doi.org/10.1007/s10545-010-9089-3
Journal of Inherited Metabolic Disease; Tylki-Szymanska A, Gradowska W et. al.

May 18th, 2010 - Aminoacylase 1 (ACY1) deficiency is a recently described inborn error of metabolism. Most of the patients reported so far have presented with rather heterogeneous neurologic symptoms. At this moment, it is not clear whether ACY1 deficiency represe...

Aminoacylase 1 deficiency
https://rarediseases.info.nih.gov/diseases/9741/aminoacylase-1-deficiency

Jul 31st, 2008 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137754 Definition An inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid ...

see more →