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A systematic study of a panel of mitochondrial functional testing in fibroblasts shows strong clinical utility
(2021) JOURNAL OF INHERITED METABOLIC DISEASE. In Journal of inherited metabolic disease 44(S1). p.139-140 -
Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
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- Journal Article
- A1
- open access
Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa
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Oral D-galactose supplementation in PGM1-CDG
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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- Journal Article
- A1
- open access
Discriminative features in three autosomal recessive cutis laxa syndromes : cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica
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TMEM70 deficiency: long-term outcome of 48 patients
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Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1
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- Journal Article
- A1
- open access
Multiple phenotypes in phosphoglucomutase 1 deficiency
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Succinyl-CoA ligase deficiency : report on the first patient resulting from a combined defect in SUGL1 an SUGL2 genes