J. Jaeken

发表

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.

E. Schaftingen, E. Van Schaftingen, H. Carchon, 1996, Archives of disease in childhood.

Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I

E. Schaftingen, J. Jaeken, E. Van Schaftingen, 1995, FEBS letters.

Carbohydrate-deficient glycoprotein syndrome type II

V. Ramaekers, P. Cock, J. Jaeken, 1993, Journal of Inherited Metabolic Disease.

MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG.

A. Palmigiano, D. Garozzo, C. Dionisi-Vici, 2017, Journal of mass spectrometry : JMS.

Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.

G. Matthijs, D. Garozzo, H. Souayah, 2012, JIMD Reports.

ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.

G. Matthijs, J. Jaeken, M. Dercksen, 2013, JIMD reports.

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

E. Bertini, E. Schaftingen, G. Matthijs, 1998, American journal of human 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.

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.

The carbohydrate-deficient glycoprotein syndromes: An overview

H. Carchon, J. Jaeken, Jacques Jaeken, 1993, Journal of Inherited Metabolic Disease.

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

P. de Cock, P. Cock, J. Jaeken, 1994, Archives of disease in childhood.

Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

F. España, J. Corral, V. Vicente, 2016, Journal of thrombosis and haemostasis : JTH.

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome

G. Matthijs, J. Creemers, A. Cano, 2008, Journal of Medical Genetics.

The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?

J. Jaeken, H. Carchon, J. Jaeken, 1993, Glycobiology.

Carbohydrate-deficient glycoprotein syndrome type II

P. de Cock, V. Ramaekers, P. Cock, 1993, Journal of Inherited Metabolic Disease.

Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature

T. Hennet, M. Aebi, M. Rocco, 2005, Journal of Inherited Metabolic Disease.

Defects of N-glycan synthesis

E. Schaftingen, G. Matthijs, H. Carchon, 2001 .

Continuing education in neurometabolic disorders--serine deficiency disorders.

B. Poll-The, J. Jaeken, T. D. de Koning, 1999, Neuropediatrics.

Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type I: apparent deficiencies in clusterin and serum amyloid P.

J. Tissot, W. Sperl, C. Bachmann, 1997, The Journal of laboratory and clinical medicine.

COG5-CDG with a Mild Neurohepatic Presentation.

G. Matthijs, V. Wong, D. Garozzo, 2012, JIMD reports.

RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation

T. Hennet, G. Matthijs, N. Goemans, 2009, Journal of Inherited Metabolic Disease.

Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx

J. Jaeken, D. Garozzo, A. Pucci, 2008, Journal of Inherited Metabolic Disease.

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder

R. Wevers, J. Jaeken, R. Steet, 2005, Journal of Inherited Metabolic Disease.

A New Subtype of a Congenital Disorder of Glycosylation (CDG) with Mild Clinical Manifestations

E. Mayatepek, J. Jaeken, G. Hoffmann, 2001, Neuropediatrics.

laxa, Debré type Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis

H. Kayserili, W. Dobyns, E. Seemanová, 2009 .

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type

S. Mundlos, H. Kayserili, W. Dobyns, 2008, Neurology.

Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).

E. Schaftingen, G. Matthijs, J. Jaeken, 1999, Biochimica et biophysica acta.

Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism

H. Mandel, M. Berant, R. Gershoni-baruch, 2000, Journal of Inherited Metabolic Disease.

Bacterial metabolism shown by magnetic resonance spectroscopy

P. Hecke, A. Baert, P. Demaerel, 1994, The Lancet.

Amino acid neurotransmission and initiation of puberty: evidence from nonketotic hyperglycinemia in a female infant and gonadotropin-releasing hormone secretion by rat hypothalamic explants.

F. de Zegher, J. Bourguignon, J. Jaeken, 1997, The Journal of clinical endocrinology and metabolism.

Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406.

F. Hanefeld, J. Jaeken, F. Skovby, 1994, Human molecular genetics.

AN APPARENT HOMOZYGOUS X-LINKED DISORDER WITH CARBOHYDRATE-DEFICIENT SERUM GLYCOPROTEINS

E. Eggermont, J. Jaeken, H. Stibler, 1987, The Lancet.

A Newly Recognized Inherited Neurological Disease with Carbohydrate Deficient Secretory Glycoproteins

J. Jaeken, H. Stibler, 1989 .

Genetic disorders and cerebellar structural abnormalities in childhood.

A. Thron, V. Ramaekers, J. Reul, 1997, Brain : a journal of neurology.

SRD5A3-CDG: a patient with a novel mutation.

G. Matthijs, V. Racé, Ç. Kasapkara, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

G. Matthijs, D. Garozzo, J. Jaeken, 2011, JIMD reports.

Inborn errors of the purine nucleotide cycle: Adenylosuccinase deficiency

M. Vincent, J. Jaeken, G. Berghe, 1997, Journal of Inherited Metabolic Disease.

The Biochemical Aspects of ASase Deficiency

M. Vincent, J. Jaeken, G. Berghe, 1993 .

Benzoate treatment and the glycine index in nonketotic hyperglycinaemia

J. Jaeken, J. Hennermann, P. Kishnani, 2005, Journal of Inherited Metabolic Disease.

Standard two-compartment formulation for total parenteral nutrition in the neonatal intensive care unit: A fluid tolerance based system.

F. de Zegher, H. Devlieger, E. Eggermont, 1993, Clinical nutrition.

Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli.

K. Devriendt, H. Van Esch, J. Fryns, 1999, American journal of human genetics.

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

R. Lachmann, M. Kroos, T. Derks, 2016, Orphanet Journal of Rare Diseases.

Localized brain proton NMR spectroscopy in young adult phenylketonuria patients

P. Hecke, A. Baert, G. Marchal, 1994, Magnetic resonance in medicine.

Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients.

M. Di Michele, J. Corral, V. Vicente, 2014, Thrombosis research.

3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: Inborn errors of serine biosynthesis

E. Schaftingen, H. Carchon, L. Maldergem, 1996, Journal of Inherited Metabolic Disease.

Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids

M. Durán, M. Pineda, L. Dorland, 2002, Journal of Inherited Metabolic Disease.

Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.

M. Knaap, B. Poll-The, M. Pineda, 2000, Neuropediatrics.

Phosphoserine phosphatase deficiency in a patient with Williams syndrome.

J. Collet, E. Van Schaftingen, J. Jaeken, 1997, Journal of medical genetics.

Bacillus cereus meningo-encephalitis in a pre-term baby.

E. Eggermont, J. Jaeken, J. Vandepitte, 1981, Acta paediatrica Belgica.

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome

G. Matthijs, J. Creemers, A. Cano, 2009, BMJ Case Reports.

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

E. Berger, M. Aebi, R. Wevers, 1998, The Journal of clinical investigation.

Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies.

R. Burgemeister, J. Jaeken, W. Gutensohn, 1994, Advances in experimental medicine and biology.

Demonstration of 4-Aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts

K. Gibson, W. Nyhan, J. Jaeken, 1985, Journal of Inherited Metabolic Disease.

One-methyl group metabolism in non-ketotic hyperglycinaemia: Mildly elevated cerebrospinal fluid homocysteine levels

F. Lazeyras, T. Bottiglieri, S. Zeisel, 1998, Journal of Inherited Metabolic Disease.

Congenital disorder of glycosylation (PMM2‐CDG) in a patient with antithrombin deficiency and severe thrombophilia

J. Corral, V. Vicente, J. Jaeken, 2012, Journal of thrombosis and haemostasis : JTH.

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications

M. Hoylaerts, J. Arnout, J. Vermylen, 2001, Journal of Inherited Metabolic Disease.

Mutations in PEX10 are a cause of autosomal recessive ataxia

H. Waterham, R. Wanders, L. de Meirleir, 2010, Annals of neurology.

Clinical and Biochemical Findings Before and After Portacaval Shunt in a Girl with Type Ib Glycogen Storage Disease

L. Hue, H. Devlieger, J. Jaeken, 1981, Pediatric Research.

Loss of Gs activity in platelets from carriers with a heterozygous missense mutation in the regulator of G-protein signaling 2 (RGS2)

J. Vermylen, K. Freson, C. Thys, 2008 .

TRANSIENT NEONATAL HYPERAMMONAEMIA AND HERPES SIMPLEX INFECTION

P. Casaer, H. Devlieger, E. Eggermont, 1982, The Lancet.

4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts.

K. Gibson, C. Jakobs, J. Jaeken, 1991, Clinica chimica acta; international journal of clinical chemistry.

The Clinical Aspects of ASase Deficiency

P. Cock, P. Casaer, J. Jaeken, 1993 .

4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency

L. Medina-Kauwe, A. Tobin, K. Gibson, 1999, Journal of Inherited Metabolic Disease.

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.

G. Matthijs, E. Martins, L. Azevedo, 2019, JIMD reports.

Possible role of platelet activation in the pathogenesis of the transient neonatal hyperammonemia syndrome

J. Vermylen, H. Devlieger, E. Eggermont, 1991 .

Reference values for free gamma-aminobutyric acid determined by ion-exchange chromatography and fluorescence detection in the cerebrospinal fluid of children.

H. Carchon, E. Eggermont, J. Jaeken, 1991, Clinica chimica acta; international journal of clinical chemistry.

D-PENICILLAMINE-INDUCED IgA DEFICIENCY IN WILSON'S DISEASE

J. Jaeken, R. Eeckels, W. Proesmans, 1976, The Lancet.

Methylmalonic acidaemia and nonketotic hyperglycinaemia. Clinical and biochemical aspects.

K. Tada, E. Eggermont, J. Colombo, 1975, Archives of disease in childhood.

Carbamyl phosphate synthetase deficiency with lethal neonatal outcome

H. Devlieger, E. Eggermont, C. Bachmann, 1982, European Journal of Pediatrics.

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.

K. Devriendt, H. Van Esch, R. Newbury-Ecob, 2019, American journal of human genetics.

SERUM THYROGLOBULIN LEVELS IN PRETERM NEONATES

C. Beckers, H. Devlieger, E. Eggermont, 1984, Clinical endocrinology.

Functional studies in fibroblasts of adenylosuccinase-deficient children

M. Vincent, J. Jaeken, G. Berghe, 1993, Journal of Inherited Metabolic Disease.

Gamma-Aminobutyric Acid-Transaminase Deficiency: A Newly Recognized Inborn Error of Neurotransmitter Metabolism

P. de Cock, J. Brucher, P. Schechter, 1984, Neuropediatrics.

Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.

J. Jaeken, H. Stibler, 1990, Archives of disease in childhood.

Bile Acid Abnormalities and the Diagnosis of Cerebro‐Hepato‐Renal Syndrome (Zellweger Syndrome)

G. Janssen, J. Eldere, E. Eggermont, 1985, Acta paediatrica Scandinavica.

Adenylosuccinase activity and succinylpurine production in fibroblasts of adenylosuccinase-deficient children.

M. Vincent, J. Jaeken, F. A. van den Bergh, 1991, Advances in experimental medicine and biology.

Radiochemical assay of adenylosuccinase: demonstration of parallel loss of activity toward both adenylosuccinate and succinylaminoimidazole carboxamide ribotide in liver of patients with the enzyme defect.

M. Vincent, J. Jaeken, F. A. van den Bergh, 1991, Analytical biochemistry.

Restrictive dermopathy with distinct morphological abnormalities.

C. de Wolf‐Peeters, J. Fryns, E. Legius, 1990, American journal of medical genetics.

Genetic Variation of the Extra-large Stimulatory G Protein α-Subunit Leads to Gs Hyperfunction in Platelets and Is a Risk Factor for Bleeding

J. Vermylen, M. Hoylaerts, J. Jaeken, 2001, Thrombosis and Haemostasis.

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

A. Munnich, E. Schaftingen, G. Matthijs, 2001, Journal of medical genetics.

Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: report on two siblings.

V. Ramaekers, M. Häusler, J. Jaeken, 2001, Neuropediatrics.

Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.

R Berger, M. Durán, M. Pineda, 2000, American journal of human genetics.

Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene

N. Goemans, I. François, J. Jaeken, 1996, Journal of Inherited Metabolic Disease.

Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13, +t(13;13)(p11;q11)/46,XX,del(13)(p11). A second example.

K. Van Herck, J. Jaeken, J. Fryns, 1989, Annales de genetique.

Liver necrosis in the new-born infant: Analysis of some precipitating factors in neonatal care

P. Moerman, H. Devlieger, E. Eggermont, 1982, European Journal of Pediatrics.

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.

H. G. Eijk, E. Eggermont, J. Jaeken, 1984, Clinica chimica acta; international journal of clinical chemistry.

Partial monosomy of the long arm of chromosome 16 in a malformed newborn: Karyotype 46,XX,del(16)(q21)

J. Fryns, H. Berghe, J. Jaeken, 1977, Human Genetics.

Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome

J. Fryns, H. Berghe, J. Jaeken, 1978, Human Genetics.

Intractable asphyxia at birth: analysis of the underlying conditions.

P. Moerman, P. Casaer, H. Devlieger, 1994, European journal of obstetrics, gynecology, and reproductive biology.

Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency

J. Fryns, H. Berghe, J. Jaeken, 2004, Human Genetics.

Neonatal haemochromatosis

P. Pauwels, J. Fryns, P. Moerman, 1990, Histopathology.

Ovarian cysts in newborn infants.

G. Marchal, H. Devlieger, E. Eggermont, 1988, American journal of diseases of children.

Partial duplication 8p due to interstitial duplication: inv dup(8)(p21.1----p22). Further delineation of the phenotype from birth to adulthood.

J. Fryns, H. van den Berghe, J. Jaeken, 1987, Annales de genetique.

Disialotransferrin developmental deficiency syndrome and olivopontocerebellar atrophy.

J. Jaeken, 1989, Archives of disease in childhood.

Possible involvement of a gamma‐hydroxybutyric acid receptor in startle disease

H. Laborit, D. Bonneau, D. Oriot, 1994, Acta paediatrica.

Diagram for easy volume setting of an infant ventilator.

H. Devlieger, E. Eggermont, J. Van Aerde, 1983, Critical care medicine.

Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY, der(10), t(3;10)(q23;q26.3) de novo karyotype.

J. Fryns, H. van den Berghe, J. Jaeken, 1988, Helvetica paediatrica acta.

Genetic disorders of renal phosphate transport.

E. Levtchenko, J. Jaeken, J. Schoeber, 2010, New England Journal of Medicine.

The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.

J. Jaeken, B. Hagberg, J. Jaeken, 1991, Acta paediatrica Scandinavica. Supplement.

Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90

J. Jaeken, P. Casaer, E. Eggermont, 1980, Pediatric Research.

[Carbohydrate-deficient glycoprotein syndrome].

H. Carchon, J. Jaeken, 1996, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

E. Schaftingen, R. Wevers, B. Poll-The, 1997, Journal of Inherited Metabolic Disease.

Neutropenia during sodium valproate treatment.

P. Casaer, H. Devlieger, E. Eggermont, 1979, Archives of disease in childhood.

Acute hydrocephalus in nonketotic hyperglycinemia

P. Demaerel, J. V. Van Hove, S. Kahler, 2000, Neurology.

Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduria

K. Gibson, C. Jakobs, J. Jaeken, 1992, European Journal of Pediatrics.

On the nomenclature of congenital disorders of glycosylation (CDG)

T. Hennet, H. Freeze, G. Matthijs, 2008, Journal of Inherited Metabolic Disease.

Congenital nephrotic syndrome: A novel phenotype of type I carbohydrate-deficient glycoprotein syndrome

M. Knaap, R. Wevers, C. Jakobs, 1996, Journal of Inherited Metabolic Disease.

Carbohydrate-deficient glycoprotein syndrome: Beyond the screen

E. Schaftingen, G. Matthijs, E. Van Schaftingen, 2000, Journal of Inherited Metabolic Disease.

Carbohydrate deficient glycoprotein (CDG) syndrome type I.

G. Matthijs, H. Carchon, R. Barone, 1997, Journal of medical genetics.

Carbohydrate deficient glycoprotein (CDG) syndrome type I.

G. Matthijs, H. Carchon, R. Barone, 1997, Journal of medical genetics.

Congenital folate malabsorption

J. Jaeken, R. Eeckels, G. Berghe, 1985, European Journal of Pediatrics.

ALG11-CDG: Three novel mutations and further characterization of the phenotype

L. de Meirleir, K. Jansen, G. Matthijs, 2014, Molecular genetics and metabolism reports.

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

G. Matthijs, R. Battini, M. Elia, 2014, Journal of Neurology.

Ring chromosome 4 mosaicism and Potter sequence.

H. van den Berghe, J. Jaeken, J. Fryns, 1988, Annales de genetique.

Niemann-Pick type C disease and early cholestasis in three brothers.

E. Eggermont, J. Jaeken, F. Van hoof, 1980, Acta paediatrica Belgica.

Adenylosuccinase deficiency: A newly recognized variant

M. Vincent, P. Casaer, J. Jaeken, 1992, Journal of Inherited Metabolic Disease.

Adenylosuccinase deficiency.

J. Jaeken, G. van den Berghe, 1986, Advances in experimental medicine and biology.

An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids.

V. Berghe, J. Jaeken, G. van den Berghe, 1984, Lancet.

Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: Parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl

M. Vincent, J. Jaeken, G. Berghe, 1993, Journal of Inherited Metabolic Disease.

Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease

J. Jaeken, H. Bouza, M. Hird, 1992, The Lancet.

Aromatic L-Amino Acid Decarboxylase Deficiency with Hyperdopaminuria. Clinical and Laboratory Findings in Response to Different Therapies

L. Lagae, R. Wevers, G. Hoffmann, 2002, Neuropediatrics.

Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)

D. Garozzo, R. Barone, J. Jaeken, 2007, Journal of Inherited Metabolic Disease.

SODIUM VALPROATE, PREGNANCY, AND INFANTILE FATAL LIVER FAILURE

E. Legius, E. Eggermont, J. Jaeken, 1987, The Lancet.

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy

F. Aarsen, M. Lequin, A. T. van der Ploeg, 2012, Neurology.

Exhaustive mutation analysis of the PMM2 gene in patients with the carbohydrate-deficient glycoprotein syndrome type I (CDG1 or Jaeken syndrome) and cloning of the mouse Pmm1 and Pmm2 genes.

E. Schaftingen, G. Matthijs, J. Cassiman, 1997 .

Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.

F. de Zegher, G. Matthijs, D. Garozzo, 2013, JIMD reports.

Adenylosuccinate lyase deficiency: an update.

M. Vincent, J. Jaeken, F. A. van den Bergh, 1994, Advances in experimental medicine and biology.

A new variant of the carbohydrate deficient glycoproteins syndrome

V. Ramaekers, J. Jaeken, J. Kint, 1991, Journal of Inherited Metabolic Disease.

A new peroxisomal disorder with fetal and neonatal adrenal insufficiency.

R. Wanders, F. de Zegher, P. Casaer, 1994, Archives of disease in childhood. Fetal and neonatal edition.

Platelet Gs hypofunction and abnormal morphology resulting from a heterozygous RGS2 mutation

M. Di Michele, E. Waelkens, R. De vos, 2010, Journal of thrombosis and haemostasis : JTH.

Oesophageal pressure measurements in ventilated preterm babies

P. Casaer, H. Devlieger, E. Eggermont, 1983, Archives of disease in childhood.

Regional Brain Glucose Utilization in Adenylosuccinase-Deficient Patients Measured by Positron Emission Tomography

A. Volder, A. Bol, A. Goffinet, 1988, Pediatric Research.

Possible platelet contribution to pathogenesis of transient neonatal hyperammonaemia syndrome

J. Vermylen, H. Devlieger, E. Eggermont, 1991, The Lancet.

Haemorrhagic disease of the newborn in the offspring of rifampicin and isoniazid treated mothers.

E. Eggermont, J. Jaeken, M. Renaer, 1976, Acta paediatrica Belgica.

Carbohydrate‐deficient glycoprotein syndrome with previously unreported features

F. Eyskens, J. Jaeken, J. Jaeken, 1994, Acta paediatrica.

Congenital disorders of glycosylation.

G. Matthijs, J. Jaeken, J. Jaeken, 2001, Annual review of genomics and human genetics.

Multiple acyl-coenzyme A dehydrogenase deficiency: acquired leukodystrophy treated with D, L-3-hydroxybutyrate.

L. Lagae, P. Demaerel, J. Jaeken, 2001 .

Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of neuropaediatrics.

J. Jaeken, P. Casaer, J. Jaeken, 1997, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Transient hyperammonemia in the preterm infant

P. Casaer, H. Devlieger, E. Eggermont, 1982, Neurology.

Angiographic evidence of low portal liver perfusion in transient neonatal hypermmonaemia.

E. Vandenbussche, G. Marchal, E. Smeets, 1980, Acta paediatrica Belgica.

Review: Normal and abnormal central nervous system GABA metabolism in childhood

J. Jaeken, P. Schechter, P. Casaer, 1990, Journal of Inherited Metabolic Disease.

Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature

T. Pulinilkunnil, J. Jaeken, J. Jaeken, 2017, Journal of Inherited Metabolic Disease.

Congenital disorders of glycosylation (CDG): It's all in it!

J. Jaeken, J. Jaeken, 2003, Journal of Inherited Metabolic Disease.

An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study.

L. Forbat, D. Cassiman, P. Witters, 2019, JIMD reports.