[PDF][PDF] Glycerol-3-phosphate dehydrogenase 1 deficiency presenting with hepatosplenomegaly and pseudohypertriglyceridemia
P Verloo, R De Bruyne, K Vanhouteghem… - SSIEM September …, 2016 - biblio.ugent.be
… Second tier next-generation sequencing for inborn errors of … Maternal vitamin B12 deficiency
detected by expanded … Identification of a novel mutation in Turkish infant with earlyonset …
detected by expanded … Identification of a novel mutation in Turkish infant with earlyonset …
Structures of the human peroxisomal fatty acid transporter ABCD1 in a lipid environment
… as a metabolic neurodegenerative disorder, phenotypic … an importer, with substrate (Vitamin
B12/Cobalamin) suggested to … assessments, our data reveal the conformational landscape …
B12/Cobalamin) suggested to … assessments, our data reveal the conformational landscape …
Predictive structure and topology of peroxisomal ATP-binding cassette (ABC) transporters
P Andreoletti, Q Raas, C Gondcaille… - International journal of …, 2017 - mdpi.com
… coli Vitamin B 12 transporter) or fusion proteins composed of … [46] also revealed conserved
coupling helices extending the … peroxisomal disorder (X-ALD) and many known mutations …
coupling helices extending the … peroxisomal disorder (X-ALD) and many known mutations …
[HTML][HTML] Diverse avenues of research support the transmethylation theory of psychosis: implications for neuroprotection
CL Miller - Exploration of Neuroprotective Therapy, 2024 - explorationpub.com
… Vitamin B12 was significantly lower in the patients with … when a decrease in MTHFR enzyme
activity is detected, along … Although individuals with an inborn error of metabolism leading …
activity is detected, along … Although individuals with an inborn error of metabolism leading …
OPEN ACCESS EDITED BY Han Lv, Beijing Friendship Hospital, Capital Medical University, China
R Huang, K Willeumier, B Hills, Z Zhang… - … of Brain Structure …, 2023 - books.google.com
… Disorders that are characterized by atypical social functioning, … Our results showed that body
and object use scores were … Expanded newborn screening for inborn errors of metabolism (…
and object use scores were … Expanded newborn screening for inborn errors of metabolism (…