S. Grünewald

发表

Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

G. Matthijs, E. Schollen, S. Grunewald, 1999, Molecular genetics and metabolism.

CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).

G. Matthijs, B. Albrecht, E. Schollen, 2005, European journal of medical genetics.

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N‐glycan synthesis

H. Stroink, T. Hennet, G. Matthijs, 2000, Annals of neurology.

Diversity of congenital disorders of glycosylation

P. Clayton, J. Leonard, S. Grünewald, 2001, The Lancet.

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

E. Schaftingen, G. Matthijs, J. Jaeken, 2001, American journal of human genetics.

Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects.

R. Wevers, S. Wopereis, E. Morava, 2007, Clinical chemistry.

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

J. H. van der Lee, S. Waisbren, K. Õunap, 2016, Journal of Inherited Metabolic Disease.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

Physical Abnormalities in Metabolic Diseases

U. Moog, J. Zschocke, S. Grünewald, 2010 .

Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.

R. Wevers, S. Wopereis, E. Morava, 2005, Glycobiology.

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

E. R. Baumgartner, J. Fryns, R. Wevers, 2002, American journal of medical genetics.

NE1542 57..59

G. Matthijs, S. Grünewald, S. Grünewald, 2022 .

Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism.

M. Ashworth, G. Anderson, J. Baruteau, 2014, Mitochondrion.

Galactose epimerase deficiency: lessons from the GalNet registry

D. Timson, M. Gautschi, M. Couce, 2022, Orphanet Journal of Rare Diseases.

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

H. Freeze, M. Patterson, Christina Lam, 2019, Journal of inherited metabolic disease.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2018, Journal of Inherited Metabolic Disease.

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

V. Drouin‐Garraud, T. Frebourg, G. Matthijs, 2000, American journal of medical genetics.

D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)

J. Leonard, J. Jaeken, P. Demaerel, 2003, The Lancet.

Swallow prognosis and follow up protocol in infantile Pompe disease

M. Cleary, M. Ryan, J. Davison, 2016 .

Biotinidase Deficiency: a Treatable Leukoencephalopathy

J. Leonard, J. Schaper, S. Grünewald, 2004, Neuropediatrics.

Effect of mutations found in carbohydrate‐deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2

G. Matthijs, J. Jaeken, E. Van Schaftingen, 1999, FEBS letters.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG)

J. Jaeken, R. De vos, S. Grünewald, 2003, Journal of Inherited Metabolic Disease.

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2019, Journal of inherited metabolic disease.

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Anita MacDonald, Flemming Skovby, Brian Fowler, 2014, Orphanet Journal of Rare Diseases.

Clinical presentation and outcome in a series of 88 patients with the cblC defect

M. Baumgartner, H. Mandel, E. Martins, 2014, Journal of Inherited Metabolic Disease.

Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

R. Lachmann, T. Derks, M. Tijssen, 2019, Journal of inherited metabolic disease.

Liver transplantation for neonatal‐onset citrullinemia

N. Heaton, M. Deheragoda, A. Dhawan, 2018, Pediatric transplantation.

Inborn errors of metabolism leading to neuronal migration defects

J. Gärtner, H. Rosewich, S. Grünewald, 2019, Journal of inherited metabolic disease.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?

J. Leonard, J. Hüsing, L. Fairbanks, 2004, Journal of Inherited Metabolic Disease.

Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia

H. Uhlig, R. Kleta, S. Grünewald, 2023, Human Genetics.

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

J. Schuurs-Hoeijmakers, H. Mandel, J. van Reeuwijk, 2011, PLoS genetics.

Metabolic Diseases

A. Broomfield, S. Grünewald, C. Wilson, 2019, Great Ormond Street Handbook of Paediatrics.

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.

R. Wevers, S. Wopereis, P. Demacker, 2003, Clinical chemistry.

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.

J. Hofsteenge, R. Wevers, K. Verrijp, 2009, American journal of human genetics.

Antenatal neurodevelopmental defects in ornithine transcarbamylase deficiency

T. Jacques, S. Grünewald, S. Paine, 2012, Neuropathology and applied neurobiology.

Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency.

Dorothy A. Thompson, H. Jägle, I. Russell-Eggitt, 2012, Archives of ophthalmology.

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG

A. Helenius, E. Berger, T. Hennet, 1999, Glycoconjugate Journal.

Congenital Disorders of Glycosylation: A Review

G. Matthijs, J. Jaeken, S. Grünewald, 2002, Pediatric Research.

Congenital disorders of glycosylation : clinical and molecular studies

S. Grünewald, S. Grünewald, 2006 .

Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.

J. H. van der Lee, S. Waisbren, M. Gautschi, 2017, JIMD reports.

Cytochrome oxidase deficiency in Lowe syndrome

S. Grünewald, I. Hargreaves, P. Cifelli, 2002, Journal of Inherited Metabolic Disease.

Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2.

G. Matthijs, E. Schollen, L. Heykants, 2001, Gene.

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.

Ron A Wevers, Eva Morava, Paul Coucke, 2005, Biochimica et biophysica acta.

Defective protein glycosylation in patients with cutis laxa syndrome

R. Wevers, J. Smeitink, S. Wopereis, 2005, European Journal of Human Genetics.

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

S. Grünewald, S. Grünewald, 2009, Biochimica et biophysica acta.

beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain.

G. Boers, R. Wevers, J. Smeitink, 1999, Biochimica et biophysica acta.

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

J. Elson, R. Wevers, S. Wortmann, 2011, Journal of Inherited Metabolic Disease.

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG

Dorothy A. Thompson, H. Jägle, I. Russell-Eggitt, 2013, Journal of Inherited Metabolic Disease.

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

Gert Matthijs, Ron A. Wevers, Thierry Hennet, 2000, Human Genetics.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.