Mol Genet Metab. 2024 Dec 16;144(1):109002. doi: 10.1016/j.ymgme.2024.109002. Online ahead of print. ABSTRACT BACKGROUND: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy historically characterized by …
PLoS One. 2024 Dec 27;19(12):e0314767. doi: 10.1371/journal.pone.0314767. eCollection 2024. ABSTRACT BACKGROUND: Almost everywhere, neonatal mortality can be decreased with ease if competent obstetricians give the …
J Mol Neurosci. 2024 Dec 27;75(1):3. doi: 10.1007/s12031-024-02304-5. ABSTRACT Focal cortical dysplasia (FCD) II is a cortical malformation characterized by cortical architectural abnormalities, dysmorphic neurons, …
Pediatr Surg Int. 2024 Dec 27;41(1):49. doi: 10.1007/s00383-024-05951-2. ABSTRACT BACKGROUND: The experience with Enhanced Recovery After Surgery® (ERAS®) protocols in neonatal intestinal surgery is very …
Metabolites. 2024 Dec 12;14(12):701. doi: 10.3390/metabo14120701. ABSTRACT Background: Cardiac diseases remain one of the leading causes of death globally, often linked to ischemic conditions that …
Vet Sci. 2024 Nov 26;11(12):596. doi: 10.3390/vetsci11120596. ABSTRACT Dyserythropoietic anemia and myopathy syndrome (DAMS) with neonatal losses was recently characterized as an autosomal recessive disorder …
Int J Neonatal Screen. 2024 Dec 21;10(4):83. doi: 10.3390/ijns10040083. ABSTRACT Glutaric aciduria type 1 (GA1) is a rare inherited metabolic disease increasingly included in newborn …
Int J Neonatal Screen. 2024 Dec 16;10(4):82. doi: 10.3390/ijns10040082. ABSTRACT In The Netherlands, newborn screening (NBS) for tyrosinemia type 1 (TT1) uses dried blood spot …
Int J Neonatal Screen. 2024 Dec 4;10(4):80. doi: 10.3390/ijns10040080. ABSTRACT Newborn screening (NBS) represents an important public health measure for the early detection of specified …
J Dev Biol. 2024 Nov 26;12(4):32. doi: 10.3390/jdb12040032. ABSTRACT Barth syndrome (BTHS) is a rare, infantile-onset, X-linked mitochondriopathy exhibiting a variable presentation of failure to …
