Results 41 to 50 of about 21,421 (302)

Fatal Hyperammonemic Brain Injury from Valproic Acid Exposure [PDF]

, 2012
Background: Hyperammonemia is known to cause neuronal injury, and can result from valproic acid exposure. Prompt reduction of elevated ammonia levels may prevent permanent neurological injury.
Bega, Danny, Boland, Torrey Ann, Chou, Sherry Hsiang-Yi, Murray, Michael, Vaitkevicius, Henrikas   +4 more
core   +2 more sources

LABRAD : Vol 39, Issue 2 - December 2013 [PDF]

, 2013
Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core   +1 more source

Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism [PDF]

, 2001
Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer
Clements JA, Crouch E, deMello DE, Dirksen U, Doyle IR, Fisher JH, Floros J, Glasser SW, Green D, Hawgood S, Ikegami M, Ikegami M, Ikegami M, Kitamura T, Kresch MJ, Madan T, Mahut B, Mason RJ, Myrianthopoulos NC, Nogee LM, Pilot-Matias TJ, Power JHT, Prakash UBS, Reed JA, Robertson B, Rosen SH, Stoll BJ, Tredano M, Vorbroker DK, Wang J-Y   +29 more
core   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

JIMD Reports, 2022
We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth.
Álvaro Martín-Rivada, L. P. Palomino Pérez, P. Ruiz-Sala, R. Navarrete, A. Cambra Conejero, Pilar Quijada Fraile, Ana Moráis López, A. Bélanger-Quintana, E. Martín‐Hernández, M. Bellusci, E. Cañedo Villaroya, Silvia Chumillas Calzada, M. T. García Silva, Ana Bergua Martínez, S. Stanescu, M. Martínez-Pardo Casanova, M. L. F. Ruano, M. Ugarte, Belén Pérez, C. Pedrón‐Giner   +19 more
semanticscholar   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Diagnostic pitfalls in neonatal hypertyrosinemia: a case report

Life Sciences, Medicine and Biomedicine, 2023
Hypertyrosinemia results from abnormality in tyrosine metabolism. Acquired hypertyrosinemia is notably more common than inherited types and typically presents with profile suggestive of secondary aetiology on biochemical testing.
Karniza Khalid, Mohd Fazrul Shafiq Kamarudzaman, Siti Nurwani Ahmad Ridzuan, Nurul Izzati Hamzan, Norzahidah Khalid, Noor Hafizah Hassan   +5 more
doaj   +1 more source

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much? [PDF]

J Inherit Metab Dis
ABSTRACT Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic disorders affecting valine and isoleucine catabolism. Long‐term therapy mainly involves dietary protein restriction. An amino acid mixture (AAM, medical food) free of the precursor amino acids is frequently used, especially when protein intake does not reach World
Margoses D, Imbard A, Pontoizeau C, Brassier A, Arnoux JB, Bouchereau J, Bérat CM, Assoun M, Belloche C, Dewulf S, Dubois S, Samba B, Servais A, Dao M, Le Guillou E, de Colnet A, Ottolenghi C, de Lonlay P, Benoist JF, Schiff M.   +19 more
europepmc   +2 more sources

Aminosäuren – Leitlinie Parenterale Ernährung, Kapitel 4 [PDF]

, 2009
Protein catabolism should be reduced and protein synthesis promoted with parenteral nutrion (PN). Amino acid (AA) solutions should always be infused with PN. Standard AA solutions are generally used, whereas specially adapted AA solutions may be required
Blumenstein, Irina Ursula, Böhles, Hansjosef, Goeters, Christiane, Schulz, Ralf-Joachim, Stein, Jürgen   +4 more
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