Results 31 to 40 of about 36,711 (394)

Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke

JIMD Reports, 2021
Adenosine kinase (ADK) deficiency is a very rare inborn error of methionine and adenosine metabolism. It is characterized by developmental delay, hypotonia, epilepsy, facial dysmorphism, failure to thrive, transient liver dysfunction with cholestasis ...
José A. Paz, Emilia K. Embiruçu, Clarissa Bueno, Rafaela C. C. L. Ferreira, Fernanda S. Oliveira, Ane S. S. Pereira, Ida V. D. Schwartz, Anderson R. B. Paiva, Leandro T. Lucato, Fernando Kok   +9 more
doaj   +1 more source

Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniques

Frontiers in Pediatrics, 2022
Congenital hyperinsulinism comprises a group of diseases characterized by a persistent hyperinsulinemic hypoglycemia, due to mutation in the genes involved in the regulation of insulin secretion.
Mariangela Martino, Jacopo Sartorelli, Vincenza Gragnaniello, Alberto Burlina   +3 more
doaj   +1 more source

A Case of Consanguinity

Global Pediatric Health, 2022
A newborn of unknown gestational age and unknown chronological age was admitted to the neonatal intensive care unit after presenting to the emergency department for evaluation and concern for neglect.
Carla Brown MD, Paige Jones-Brooks BS, Gwenevere White MD, Zackary Shearer MD, Megan Baber DO   +4 more
doaj   +1 more source

Indications for pediatric liver transplantation [PDF]

, 1987
Two hundred fifty pediatric (
Andreas G. Tzakis, Baburao Koneru, Carlos O. Esquivel, Esquivel, Esquivel, Gordon, Iwatsuki, Leonard Makowka, National Institutes of Health Consensus Development Conference Statement, Robert D. Gordon, Satoru Todo, Shaw, Shaw, Shunzaburo Iwatsuki, Starzl, Starzl, Starzl, Starzl, Thomas E. Starzl, Tzakis, Urbach, Wallis W. Marsh   +21 more
core   +1 more source

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening

Molecular Genetics and Metabolism Reports, 2022
Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase.
Hela Hajji, Apolline Imbard, Anne Spraul, Ludmia Taibi, Valérie Barbier, Dalila Habes, Anaïs Brassier, Jean-Baptiste Arnoux, Juliette Bouchereau, Samia Pichard, Samira Sissaoui, Florence Lacaille, Muriel Girard, Dominique Debray, Pascale de Lonlay, Manuel Schiff   +15 more
doaj  

Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby

Asian Journal of Medical Sciences, 2013
Inborn errors of amino acid metabolism (IEM) are of concern in India, the spectrum being wide, varied and poorly diagnosed. Since aggregate incidence of inborn errors of metabolism is relatively high, in countries such as India, a high degree of ...
Moushumi Lodh
doaj   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Clinical pathways for inborn errors of metabolism: warranted and feasible

Orphanet Journal of Rare Diseases, 2013
Inborn errors of metabolism (IEMs) are known for their low prevalence and multidisciplinary care mostly founded on expert opinion. Clinical pathways are multidisciplinary tools to organise care which provide a clear route to the best care and improve ...
Demirdas Serwet, van Kessel Imke N, Korndewal Marjolein J, Hollak Carla EM, Meutgeert Hanka, Klaren Anja, van Rijn Margreet, van Spronsen Francjan J, Bosch Annet M   +8 more
doaj   +1 more source

A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders

Frontiers in Neurology, 2020
Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and hypokinetic (rigid-akinetic syndrome) movement disorders. The diagnosis of these diseases is in
Juan Darío Ortigoza-Escobar
doaj   +1 more source

Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other

Metabolites, 2022
In inborn errors of metabolism, such as amino acid breakdown disorders, loss of function mutations in metabolic enzymes within the catabolism pathway lead to an accumulation of the catabolic intermediate that is the substrate of the mutated enzyme.
Namgyu Lee, Dohoon Kim
doaj   +1 more source