Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.

[1]  Yong Geun Jeon,et al.  Physiological and pathological roles of lipogenesis , 2023, Nature Metabolism.

[2]  J. Marques.  The Clinical Management of Pompe Disease: A Pediatric Perspective , 2022, Children.

[3]  Thiel Christian,et al.  Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature , 2022, Molecular Genetics and Metabolism.

[4]  H. Freeze,et al.  Chemical Therapies for Congenital Disorders of Glycosylation. , 2021, ACS chemical biology.

[5]  Jing Gu,et al.  The role of lysosomal membrane proteins in glucose and lipid metabolism , 2021, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[6]  Yoshiki Narimatsu,et al.  Global view of human protein glycosylation pathways and functions , 2020, Nature Reviews Molecular Cell Biology.

[7]  J. Jaeken,et al.  Congenital disorders of glycosylation: Still "hot" in 2020. , 2020, Biochimica et biophysica acta. General subjects.

[8]  B. Pérez,et al.  New and potential strategies for the treatment of PMM2-CDG. , 2020, Biochimica et biophysica acta. General subjects.

[9]  H. Blom,et al.  Effect of BTD gene variants on in vitro biotinidase activity. , 2019, Molecular genetics and metabolism.

[10]  H. Freeze,et al.  International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up , 2019, Journal of inherited metabolic disease.

[11]  J. Merritt,et al.  Fatty acid oxidation disorders. , 2018, Annals of translational medicine.

[12]  B. Davidson,et al.  Lysosomal storage diseases , 2018, Nature Reviews Disease Primers.

[13]  L. de Meirleir,et al.  Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial , 2018, Journal of Inherited Metabolic Disease.

[14]  C. Ferreira,et al.  Recognizable phenotypes in CDG , 2018, Journal of Inherited Metabolic Disease.

[15]  R. Eils,et al.  Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. , 2018, Molecular genetics and metabolism.

[16]  L. O’Neill,et al.  A Role for the Krebs Cycle Intermediate Citrate in Metabolic Reprogramming in Innate Immunity and Inflammation , 2018, Front. Immunol..

[17]  G. Matthijs,et al.  Congenital disorders of glycosylation (CDG): Quo vadis? , 2017, European journal of medical genetics.

[18]  T. D. de Koning.  Amino acid synthesis deficiencies , 2017, Journal of inherited metabolic disease.

[19]  Hongyu Zhao,et al.  Catalase deletion promotes prediabetic phenotype in mice , 2017, Free radical biology & medicine.

[20]  Ajit Varki,et al.  Biological roles of glycans , 2016, Glycobiology.

[21]  J. Smeitink,et al.  Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease , 2015, Journal of Inherited Metabolic Disease.

[22]  Fanny Mochel,et al.  The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview , 2015, Journal of Inherited Metabolic Disease.

[23]  Fanny Mochel,et al.  An overview of inborn errors of complex lipid biosynthesis and remodelling , 2015, Journal of Inherited Metabolic Disease.

[24]  M. Akram.  Citric Acid Cycle and Role of its Intermediates in Metabolism , 2014, Cell Biochemistry and Biophysics.

[25]  C. Gieger,et al.  Increased amino acids levels and the risk of developing of hypertriglyceridemia in a 7-year follow-up , 2014, Journal of Endocrinological Investigation.

[26]  C. Thiel,et al.  Screening for congenital disorders of glycosylation in the first weeks of life , 2013, Journal of Inherited Metabolic Disease.

[27]  G. Matthijs,et al.  Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation‐Ip , 2012, Human mutation.

[28]  B. Lentz,et al.  Modulation of Prothrombinase Assembly and Activity by Phosphatidylethanolamine* , 2011, The Journal of Biological Chemistry.

[29]  C. Thiel,et al.  Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation. , 2010, Human molecular genetics.

[30]  G. Sheldrick,et al.  Structure of Tripeptidyl-peptidase I Provides Insight into the Molecular Basis of Late Infantile Neuronal Ceroid Lipofuscinosis* , 2009, Journal of Biological Chemistry.

[31]  D. Torre,et al.  Reye's and Reye's‐like syndromes , 2008, Cell biochemistry and function.

[32]  T. Skotland,et al.  Quantification of 13C pyruvate and 13C lactate in dog blood by reversed-phase liquid chromatography-electrospray ionization mass spectrometry after derivatization with 3-nitrophenylhydrazine. , 2007, Journal of pharmaceutical and biomedical analysis.

[33]  Ruedi Aebersold,et al.  Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry , 2003, Nature Biotechnology.

[34]  Ronald J A Wanders,et al.  A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. , 2002, Biochimica et biophysica acta.

[35]  G. Karikas,et al.  Low Serum Biotinidase Activity in Children with Valproic Acid Monotherapy , 2001, Epilepsia.

[36]  K. von Figura,et al.  Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency. , 1998, Glycobiology.

[37]  T. Suormala,et al.  BiotinidaseKm-variants: detection and detailed biochemical investigations , 1995, Journal of Inherited Metabolic Disease.

[38]  L. Peltonen,et al.  Intracellular sorting of aspartylglucosaminidase: the role of N-linked oligosaccharides and evidence of Man-6-P-independent lysosomal targeting. , 1995, DNA and cell biology.

[39]  B. Oostra,et al.  Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites. , 1993, The Biochemical journal.

[40]  D. Crane,et al.  Confirmation that catalase is a glycoprotein. , 1986, Biochemistry International.

[41]  M. Hilty,et al.  Reye's syndrome and hyperaminoacidemia. , 1974, The Journal of pediatrics.

[42]  L. Tong.  Striking Diversity in Holoenzyme Architecture and Extensive Conformational Variability in Biotin-Dependent Carboxylases. , 2017, Advances in protein chemistry and structural biology.

[43]  B. Brügger,et al.  Quantitative analysis of cellular lipids by nano-electrospray ionization mass spectrometry. , 2013, Methods in molecular biology.