Results 61 to 70 of about 2,125,068 (305)

Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA

Scientific Reports
Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López, Luisa F. Prada, Carlos J. Alméciga-Díaz   +2 more
doaj   +1 more source

Stable isotopes in the management and diagnosis of inborn errors of metabolism

, 1990
Stable isotope techniques offer advantages over older methods in safety, sensitivity, specificity, and reduction in number of subjects required for analytic determinations in some types of studies in "inborn errors of metabolism." In addition to their ...
Howard G. Parsons
core   +1 more source

Inborn errors of metabolism in the differential diagnosis of fatty liver disease

, 2020
Nonalcoholic fatty liver disease (NAFLD) has become the most common chronic liver disease across all age groups. Obesity, diabetes, and metabolic syndrome, are the primary causes that are closely linked with the development of NAFLD.
YILDIZ, YILMAZ, SİVRİ, HATİCE SERAP, Yılmaz Yıldız, Hatice Serap Sivri   +3 more
core   +1 more source

When meta‐analyses mislead: Promises and pitfalls in teratology counselling

British Journal of Clinical Pharmacology, EarlyView.
Meta‐analysis has become a central tool for evidence synthesis in clinical teratology, offering the promise of increased statistical power, earlier signal detection and consolidated guidance for teratology counselling. When conducted rigorously and interpreted carefully, pooled analyses can provide clinicians with a structured basis for risk ...
Yusuf Cem Kaplan, Nusret Uysal
wiley   +1 more source

The global extent of polypharmacy in neonatal intensive care: A systematic review

British Journal of Clinical Pharmacology, EarlyView.
Aims Pharmaceutical treatment in the neonatal intensive care unit (NICU) is challenging, with neonates often receiving multiple drugs during hospitalization. Given their physiological immaturity, polypharmacy raises concerns about potential adverse effects, drug–drug interactions and the risk of supratherapeutic or subtherapeutic treatment.
Mia Finserås Bretun, Ditte Resendal Gotfredsen, Aase Merethe Raddum, Charlotte Vermehren, Jón Þór Trærup Andersen, Ulrik Lausten‐Thomsen, Christina Gade   +6 more
wiley   +1 more source

Nutritional Management of Patients with Inborn Errors of Metabolism

Inborn errors of metabolism (IEM) are a large group of single-gene disorders resulting from enzyme defects in biochemical and metabolic pathways [...
Isidro Vitoria, María-Luz Couce
core   +1 more source

Population pharmacokinetics of levetiracetam in term neonates with hypoxic–ischemic encephalopathy and therapeutic hypothermia: The LEVNEONAT‐1 study

British Journal of Clinical Pharmacology, EarlyView.
Aim This study aimed to describe the pharmacokinetics (PK) of levetiracetam (LEV) in term neonates treated for neonatal seizures secondary to hypoxic–ischemic encephalopathy (HIE). Methods Fifteen neonates were included and received a loading dose ranging from 30 to 60 mg/kg followed by eight maintenance doses corresponding to one‐fourth of the loading
Léo Mimram, Moreno Ursino, Julie Leger, Emilie Bourrel‐Ponchel, Florence Flamein, Alexandra Chadie, Isabelle Guellec, Sarah Zohar, Vincent Jullien, Géraldine Favrais   +9 more
wiley   +1 more source

Angelman syndrome and isovaleric acidemia: What is the link?

Molecular Genetics and Metabolism Reports, 2015
We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both
Alix Lambrecht, Samia Pichard, Hélène Maurey, Nuria Garcia Segarra, Séverine Drunat, Cécile Acquaviva-Bourdain, Sandrine Passemard, Jean-François Benoist, Anne-Laure Fauret-Amsellem, Manuel Schiff   +9 more
doaj   +1 more source

Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes

Neurobiology of Disease, 2010
AGAT and GAMT, the two enzymes of the creatine synthesis pathway, are well expressed within CNS, suggesting autonomous brain creatine synthesis. This contradicts SLC6A8 deficiency, which causes creatine deficiency despite CNS expression of AGAT and GAMT.
Olivier Braissant, Elidie Béard, Céline Torrent, Hugues Henry   +3 more
doaj   +1 more source

Inborn errors in the metabolism of glutathione [PDF]

Orphanet Journal of Rare Diseases, 2007
Glutathione is a tripeptide composed of glutamate, cysteine and glycine. Glutathione is present in millimolar concentrations in most mammalian cells and it is involved in several fundamental biological functions, including free radical scavenging, detoxification of xenobiotics and carcinogens, redox reactions, biosynthesis of DNA, proteins and ...
Larsson Agne, Ristoff Ellinor
openaire   +3 more sources