Results 121 to 130 of about 12,812 (223)

Clinico-Biochemical Spectrum of Pakistani Patients with Glutaric Aciduria Type 1 (GA1): Experience from a Specialised Biochemical Genetics Laboratory in Pakistan.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
OBJECTIVE To evaluate the clinical, radiological, and biochemical features of glutaric aciduria Type 1 (GA1) patients identified through urine organic acid testing at a biochemical genetics laboratory (BGL) in Pakistan. STUDY DESIGN Observational study.
Muhammad Bilal, L. Jafri, H. Majid, Aysha Habib Khan, Sibtain Ahmed   +4 more
semanticscholar   +1 more source

Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1

Movement Disorders Clinical Practice, Volume 12, Issue 9, Page 1421-1424, September 2025.
Giulia Scacciatella, Costanza Masetti, Vidal Yahya, Mauro Treddenti, Gaia Oggioni, Tommaso Bocci, Laura Campiglio, Manuela Zardoni, Chiara Rosci, Marta Pengo, Chiara Manfredi, Roberto Del Bo, Edoardo Monfrini, Alessio Di Fonzo, Maurizio Inghilleri, Alberto Priori   +15 more
wiley   +1 more source

Lactante de 9 meses con convulsiones [PDF]

, 2008
- Datos Clínicos. - Antecedentes personales. - Enfermedad actual.
Fabi, Mariana, Zubiri, Cecilia
core  

Disorders of Fatty Acid Oxidation in the Era of Tandem Mass Spectrometry in Newborn Screening

, 2008
With recent advances in laboratory technology with tandem mass spectrometry (MS/MS), the number of infants identified with a fatty acid oxidation disorder has increased dramatically.
Banta-Wright, Sandra A., Bennett, Michael J., Shelton, Kathleen C.   +2 more
core   +1 more source

The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS [PDF]

, 2021
Background: Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first 6 years of life.
Bulut, D, Ceylaner, G, Incecik, F, Kılavuz, S, Kor, D, Onan, B, Önenli-Mungan, N, Özcan, N, Şeker-Yılmaz, B   +8 more
core  

Targeting specific nutrient deficiencies in proteinrestricted diets: some practical facts in PKU dietary management [PDF]

, 2014
Among aminoacidopathies, phenylketonuria (PKU) is the most prevalent one. Early diagnosis in the neonatal period with a prompt nutritional therapy (low natural-protein and phenylalanine diet, supplemented with phenylalanine-free amino acid mixtures and ...
Almeida, Manuela F., Alves, Rita C., Costa, Anabela S. G., Delerue-Matos, Cristina, Fernandes, Telmo J. R., Oliva-Teles, M. Teresa, Oliveira, M. Beatriz P. P., Pimentel, Filipa B., Torres, Duarte   +8 more
core   +1 more source

Symptom [PDF]

Genetic Information Not a rare disease but incidence is unknown. No known population at increased risk. ETF alpha subunit: 15q23-25 ETF beta subunit 19q13.3 No known common mutations.
Autosomal Recessive
core  

Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes? [PDF]

, 2013
Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the
Aggarwal, A, Batla, A, Bhatia, KP, Bhatt, M, Houlden, H, Lai, SC, Lu, C-S, Schneider, SA, Stamelou, M, Yeh, T-H   +9 more
core  

Characterization, structure and inhibition of the human succinyl-CoA:glutarate-CoA transferase, a genetic modifier of glutaric aciduria type 1

bioRxiv
Glutaric Aciduria Type 1 (GA1) is a serious inborn error of metabolism with no pharmacological treatments. A novel strategy to treat this disease is to divert the toxic biochemical intermediates to less toxic or non-toxic metabolites.
S. Khamrui, Tetyana Dodatko, Ruoxi Wu, João Leandro, Amanda Sabovic, S. Violante, Justin R. Cross, Eric Marsan, Kunal Kumar, Robert J. Devita, Michael B. Lazarus, S. Houten   +11 more
semanticscholar   +1 more source

Not So Rare: Errors of Metabolism during the Neonatal Period

, 2003
During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
core   +1 more source