Volume 141, Issue 7

Search all Human Genetics articles

July 2022

Special Issue: Inherited Errors of Metabolism

Issue Editors:

Jean-Louis Guéant,
François Feillet

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8 articles in this issue

Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping
Jean-Louis Guéant
François Feillet
Editorial 27 June 2022 Pages: 1235 - 1237
Part of 2 collections:

Inherited errors of metabolism

Inherited errors of metabolism
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review
Karim Matmat
Rosa-Maria Guéant-Rodriguez
Jean-Baptiste Conart
Review 15 October 2021 Pages: 1239 - 1251
Part of 2 collections:

Inherited errors of metabolism

Inherited errors of metabolism
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria
Patrick Forny
Tanja Plessl
Matthias R. Baumgartner
Original Investigation Open access 18 November 2021 Pages: 1253 - 1267
Part of 2 collections:

Inherited errors of metabolism

Inherited errors of metabolism
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study
Jean-Philippe Mergnac
Arnaud Wiedemann
Abderrahim Oussalah
Original Investigation 08 September 2021 Pages: 1269 - 1278
Part of 2 collections:

Inherited errors of metabolism

Inherited errors of metabolism
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation
Eline Blommaert
Natalia A. Cherepanova
Gert Matthijs
Original Investigation 19 February 2022 Pages: 1279 - 1286
Part of 2 collections:

Inherited errors of metabolism

Inherited errors of metabolism
SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation
Zoé Durin
Johanne Dubail
François Foulquier
Original Article 08 January 2022 Pages: 1287 - 1298
Part of 2 collections:

Inherited errors of metabolism

Inherited errors of metabolism
How to fix a broken protein: restoring function to mutant human cystathionine β-synthase
Warren D. Kruger
Review 12 October 2021 Pages: 1299 - 1308
Part of 2 collections:

Inherited errors of metabolism

Inherited errors of metabolism
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes
Jean-Louis Guéant
Youssef Siblini
Abderrahim Oussalah
Review 21 February 2022 Pages: 1309 - 1325
Part of 2 collections:

Inherited errors of metabolism

Inherited errors of metabolism

Volume 141, Issue 7

Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping

Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review

Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria

Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study

Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation

SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation

How to fix a broken protein: restoring function to mutant human cystathionine β-synthase

Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes

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