Results 141 to 150 of about 3,887 (227)

Delayed Diagnosis of Glutaric Aciduria Type 1: A Case Report. [PDF]

Cureus
Larancuent CE, Weiler T, Kana SL.
europepmc   +1 more source

Chorea in Hereditary Leukodystrophies - Overview of Two Cases. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Milovanović A, Ječmenica-Lukić M, Mazalica N, Radišić V, Đorđević-Milošević M, Marjanović A, Branković M, Marković V, Kresojević N, Kostić V, Dragašević-Mišković N.   +10 more
europepmc   +1 more source

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders [PDF]

core   +1 more source

First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant. [PDF]

Orphanet J Rare Dis
Parvini F, Ajam-Hosseini M, Shadpour M.
europepmc   +1 more source

A National Assessment of the Newborn Screening Workforce for Metabolic Conditions, Phase Two Report [PDF]

, 2012
McGrath, Robert J., Stransky, Michelle L.   +1 more
core   +1 more source

Implementation Timeframes for the Addition of New Conditions to Newborn Bloodspot Screening Programmes: A Scoping Review. [PDF]

Int J Neonatal Screen
Brennan MM, O'Connell A, O'Grady L, Elsammak M, Brady JJ, Marsden P, Burns H, Collins A.   +7 more
europepmc   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]

Int J Neonatal Screen
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC.   +5 more
europepmc   +1 more source

Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum. [PDF]

Glob Med Genet
Baskar D, Christopher R, Arunachal G, Anudeep DDS, Mounika A, Sangeeth TA, Polavarapu K, Shalini BS, Joshi T, Sanka SB, Nashi S, Raja P, Chowdary RM, Yadav R, Nalini A, Vengalil S.   +15 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

Phenotypic and Genotypic Characteristics of Adult-Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review. [PDF]

Brain Behav
Wei L, Li J, Xie Z, Zhu Y, Chen J, Zhao Y, Yuan Y, Huang Y, Yang Y, Wang Z, Chen J.   +10 more
europepmc   +1 more source