Results 101 to 110 of about 3,887 (227)

Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT The number of inherited metabolic diseases (IMDs) in newborn screening (NBS) programs has increased significantly in the past decades. For some of the IMDs included in NBS (e.g., tyrosinemia type I), there are clear and substantial health benefits of NBS, while for others (e.g., very long chain acyl CoA dehydrogenase deficiency and 3 ...
Mirjam Langeveld, Sandra Sirrs, Daphne H. Schoenmakers, Timothy Fazio, Melanie M. van der Klauw, Francois Maillot, Reena Sharma, Christel Tran, Athanasia Ziagaki, Fanny Mochel   +9 more
wiley   +1 more source

Ketotic Hypoglycaemia Following Sleeve Gastrectomy

Clinical Endocrinology, Volume 103, Issue 1, Page 45-49, July 2025.
ABSTRACT Post‐bariatric surgery hypoglycaemia is typically mediated by hyperinsulinaemia, although the exact mechanisms are incompletely understood. Two cases of non‐insulin mediated, ketotic hypoglycaemia following sleeve gastrectomy are presented. After fasting for 40 and 65 h, respectively, both patients developed symptomatic hypoglycaemia, with ...
Jinwen He, Liza Phillips, Janelle Nisbet, Adam Morton   +3 more
wiley   +1 more source

Glutaric aciduria type 1: a review of phenotypic and genetic characteristics

Journal of Biochemical and Clinical Genetics, 2019
Glutaric aciduria type I (GA1) is an inherited metabolic disorder in which excessive levels of the amino acids lysine, hydroxylysine, and tryptophan accumulate in the body as a result of defective glutaryl-CoA dehydrogenase (GCDH) enzyme activity ...
Ali M AlAsmari, Mohammed M Saleh, Abdul Ali Peer-Zada   +2 more
doaj   +1 more source

Response to Comment on 26 cm Fall Caught on Video Causing Subdural Hemorrhages and Extensive Retinal Hemorrhages in an 8‐Month‐Old Infant

Clinical Case Reports, Volume 13, Issue 10, October 2025.
Chris Brook, Waney Squier, Julie Mack
wiley   +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  

Genetic basis of hyperlysinemia [PDF]

, 2013
Background: Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding aminoadipic semialdehyde synthase has been reported.
Augoustides-Savvopoulou, P. (Persa), Baumgartner, M.R. (Matthias), Coşkun, T. (Turgay), Denis, S. (Simone), Duran, M. (Marinus), Houten, S.M. (Sander M.), Häberle, J. (Johannes), Klerk, J.B.C. (Johannes) de, Knegt, A.C. (Alida), Poll-The, B.T., Ruiter, J.P.N. (Jos), Sass, J.O. (Jörn Oliver), Te Brinke, H. (Heleen), Wanders, R.J.A. (Ronald), Zschocke, J. (Johannes)   +14 more
core   +1 more source

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A study from Tawam Hospital Metabolic Center, United Arab Emirates [PDF]

, 2014
Objectives: This study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM) among Emiratis. Methods: The reported mutation spectrum included all patients who were diagnosed with IEM (excluding those with lysosomal ...
Al-Hamad, Sania, Al-Jasmi, Fatma, Al-Shamsi, Aisha, Hertecant, Jozef L., Souid, Abdul-Kader   +4 more
core   +3 more sources

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

Selected Abstracts of the 6th International Congress of UENPS; Valencia (Spain); November 23rd-25th 2016; Session “Neonatology and NICU clinical care and practices”

Journal of Pediatric and Neonatal Individualized Medicine, 2016
Selected Abstracts of the 6th International Congress of UENPS; Valencia (Spain); November 23rd-25th 2016; Session “Neonatology and NICU clinical care and practices” ABS 1. BILATERAL CLAVICLE FRACTURE: A RARE CAUSE OF PERSISTENT CRYING • P.
--- Various Authors
doaj   +1 more source

The genetic basis of DOORS syndrome: an exome-sequencing study. [PDF]

, 2014
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause.
Aftimos, S, Banka, S, Begleiter, ML, Bhaskar, SS, Blair, E, Burrage, LC, Campeau, PM, Cheung, SW, De Bie, I, Dickerson, JE, Félix, TM, Gibbs, RA, Giltay, JC, Giuliano, F, Golabi, M, Hennekam, RC, Hori, M, Kariminejad, A, Kasperaviciute, D, Kayserili, H, Kerr, B, Kim, C, Lee, BH, Lu, JT, Male, A, Meenakshi, G, Mey, A, Murray, ML, Nair, LD, Nampoothiri, S, Newman, WG, Powell, BR, Repetto, GM, Rump, P, Sisodiya, SM, Stewart, F, Tostevin, A, van den Ende, J, Wieczorek, D, Wisniewska, M, Wiszniewska, J   +40 more
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