[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 …
[HTML][HTML] 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 …
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 (…
Characterization of patients with combined methylmalonic aciduria and homocystinuria diagnosed as cblC
A Brebner - 2014 - escholarship.mcgill.ca
… describes two novel genes causing inborn errors of cobalamin metabolism and four novel
mutations in MMACHC. … This phenotype is typically seen in the cblF and cblJ inborn errors. …
mutations in MMACHC. … This phenotype is typically seen in the cblF and cblJ inborn errors. …