List of works by Serge B. Melançon

A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features

scientific article published on 01 October 2011

A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism

scientific article

A syndrome of generalized elastic fiber deficiency with leprechaunoid features: a distinct genetic disease with an autosomal recessive mode of inheritance

scientific article published on 01 July 1976

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

scientific article

Acetic and benzoic acids in the urine of patients with chronic schizophrenia ⬇️

scientific article published on 01 January 1971

Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phophoribosyl transferase in families of Lesch--Nyhan patients

scientific article published on 01 April 1978

Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy

scientific article published on December 1987

Alu-PCR combined with non-Alu primers reveals multiple polymorphic loci

scientific article

Amino acid metabolism in Friedreich's ataxia

scientific article published on 01 November 1976

Amniotic fluid alpha-galactosidase activity: an indicator of gestational age.

scientific article

Amniotic-fluid disaccharidases in the prenatal detection of cystic fibrosis ⬇️

scientific article published on September 10, 1983

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds ⬇️

scientific article published on August 1, 1992

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11.

scientific article

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

article published in 1998

Biochemical approach to prenatal diagnosis of inborn errors of metabolism and congenital malformations

scientific article published on 01 December 1975

Carrier status diagnosis in Duchenne muscular dystrophy with "conformational" DNA polymorphism

scientific article published on 01 January 1992

Characterization of the mutant N-acetylglucosaminylphosphotransferase in I-cell disease and pseudo-Hurler polydystrophy: complementation analysis and kinetic studies

scientific article published on 01 January 1986

Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)

scientific article published on March 1, 1975

Chronic sodium benzoate therapy in children with inborn errors of urea synthesis: effect on carnitine metabolism and ammonia nitrogen removal

scientific article published on 01 February 1996

Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

scientific article published on January 1993

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria

scientific article published on 01 March 1986

Clinical laboratory findings in Friedreich's ataxia

scientific article published on 01 November 1976

Clinical spectrum of infantile free sialic acid storage disease

scientific article (publication date: 19 February 1999)

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

scientific article

Comparative study of urine and serum organic acids in newborn infants using gas chromatography

scientific article published on April 1, 1974

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

scientific article

Correlation between serum lipoamide dehydrogenase activity and phosphatidylcholine therapy in Friedreich's ataxia.

scientific article

Cultivated epithelial-like cells and fibroblasts from amniotic fluid: their relationship to enzymatic and cytologic analysis.

scientific article published in October 1972

Date of conception and prevention of neural tube defects.

scientific article published on October 1984

Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec ⬇️

scientific article published on June 1, 1992

Detection of fructose-1,6-diphosphatase deficiency with use of white blood cells

scientific article published in March 1972

Developmental patterns of intestinal disaccharidases in human amniotic fluid ⬇️

scientific article published on May 1, 1978

Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease)

scientific article published on 01 March 1994

Dicarboxylic Amino Acid Uptake in Normal, Friedreich's Ataxia, and Dicarboxylic Aminoaciduria Fibroblasts ⬇️

scientific article published on 01 May 1979

Dicarboxylic aminoaciduria: an inborn error of amino acid conservation.

scientific article published in September 1977

Differential stabilities of fetal intestinal disaccharidases determine their relative amounts released into amniotic fluid

scientific article published on 01 January 1984

Early treatment of severe infantile glycine encephalopathy (nonketotic hyperglycinemia) with strychnine and sodium benzoate

scientific article published on January 1, 1979

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec

scientific article published on 13 July 2012

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

scientific article published on 01 October 2020

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

scientific article published on 31 December 2012

FOXE3 plays a significant role in autosomal recessive microphthalmia

scientific article

Failure to detect trans-3-methyl-2-hexenoic acid in the sweat of schizophrenic patients ⬇️

scientific article published on December 1, 1970

Fetal intestinal disaccharidases in human amniotic fluid

scientific article published on July 1, 1976

Fetal intestinal microvilli in human amniotic fluid

scientific article published on 01 November 1986

Feto-maternal amino acid metabolism

scientific article published on 01 October 1974

Filamin A mutation may be associated with diffuse lung disease mimicking bronchopulmonary dysplasia in premature newborns.

scientific article published on 22 July 2014

Fluorometric assay of neuraminidase with a sodium (4-methylumbelliferyl-alpha-D-N-acetylneuraminate) substrate

scientific article published on April 1979

Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes

scientific article published on 01 September 1996

Friedreich's ataxia: malic enzyme activity in cellular fractions of cultured skin fibroblasts

scientific article published on 01 November 1984

GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases

scientific article published on 01 March 1998

Genetic homogeneity at the Friedreich ataxia locus on chromosome 9

scientific article

Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures

scientific article published on 01 March 1996

Glucose and insulin metabolism in Friedreich's ataxia.

scientific article published in November 1976

Growth Hormone Levels in Friedreich's Ataxia ⬇️

scientific article published on 01 November 1977

Heparin cofactor II–thrombin complex: A biomarker of MPS disease

scientific article published on 03 June 2008

Histidase activity in cultivated human amniotic fluid cells

scientific article published on 01 August 1971

Hypocarnitinemia in patients affected by a primary defect of ammonia metabolism treated with sodium benzoate

scientific article published on May 1990

Increased plasma catecholamines in patients with Friedreich's ataxia

scientific article published on 01 May 1982

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

scientific article published on 14 November 2013

Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe

scientific article published on 01 December 1988

Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French-Canadian population

scientific article published on 01 March 1994

Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families

scientific article published on 01 September 1992

Lipoamide dehydrogenase in Friedreich's ataxia fibroblasts

scientific article published on February 1, 1978

Lipoamide dehydrogenase in cultured human skin fibroblasts

scientific article published in July 1978

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

scientific article

Maternal alphafetoproteln screening by the polypropylene tube immunoradiometric assay on dried blood ⬇️

scientific article published on 01 October 1982

Metabolic and biochemical studies in fructose 1,6-diphosphatase deficiency.

scientific article published in April 1973

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

scientific article published in June 2015

Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures

scientific article

Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene

scientific article

Molecular size of N-acetylglucosaminylphosphotransferase and alpha-N-acetylglucosaminyl phosphodiesterase as determined in situ in Golgi membranes by radiation inactivation

scientific article published on May 1986

More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians

scientific article

N-acetyl-β-hexosaminidase isoenzymes of amniotic fluid and maternal serum. Their relevance to prenatal diagnosis of the GM2 gangliosidoses ⬇️

scientific article published on May 2, 1977

Neuraminidase activity in the mucolipidoses (types I, II and III) and the cherry-red spot myoclonus syndrome ⬇️

scientific article published on December 3, 1979

Neuraminidase in Cultured Fibroblasts and Leucocytes of Homozygotes and Heterozygotes for the Mucolipidosis II Gene (I-Cell Disease) ⬇️

scientific article published on 01 January 1979

Occurrence and Properties of Fetal Intestinal Glycosidases (Disaccharidases) in Human Amniotic Fluid ⬇️

scientific article published on January 1, 1975

Oral and dental development in X chromosome aneuploidy

scientific article published on 01 February 1985

Oral lecithin and linoleic acid in Friedreich's ataxia: I. Design of the study, material and methods

scientific article published on 01 May 1982

Oral lecithin and linoleic acid in Friedreich's ataxia: II. Clinical results

scientific article published on May 1982

Oral lecithin and linoleic acid in Friedreich's ataxia: III. Biochemical results

scientific article published on 01 May 1982

Origin and developmental patterns of lactase and other glycosidases in sheep amniotic and allantoic fluid ⬇️

scientific article published on September 1, 1979

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

scientific article published on 01 May 1997

Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD)

scientific article published on 17 May 2012

Prenatal detection of intestinal obstruction: deficient amniotic fluid disaccharidases in affected fetuses

scientific article published on 01 September 1980

Prenatal detection of intestinal obstructions, aneuploidy syndromes, and cystic fibrosis by microvillar enzyme assays (disaccharidases, alkaline phosphatase, and glutamyltransferase) in amniotic fluid

scientific article published on 01 February 1987

Prenatal detection of the autosomal recessive type of polycystic kidney disease by trehalase assay in amniotic fluid

scientific article published on 01 January 1981

Prenatal detection of the congenital nephrotic syndrome (Finnish type) by trehalase assay in amniotic fluid ⬇️

scientific article published on 01 July 1984

Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid

scientific article published on 01 September 1995

Prenatal diagnosis of fetal anomalies during the second trimester of pregnancy: Their characterization and delineation of defects in pregnancies at risk ⬇️

scientific article published on 01 August 1991

Prenatal diagnosis of genetic diseases during the second trimester of pregnancy, II: results

scientific article published on 01 April 1982

Prenatal diagnosis using DNA probes in twins at risk for Duchenne muscular dystrophy

scientific article published on 01 July 1986

Prenatal diagnosis: data on the cell viability and alpha fetoproteins of the amniotic fluid

scientific article published on December 1, 1975

Proceedings: Dicarboxylic aminoaciduria: a new metabolic disease involving the transport of glutamic and aspartic acids

scientific article published on 01 September 1975

Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn

scientific article published on 01 January 1989

Purification and some properties of liver and brain beta-N-acetyl-hexosaminidase S.

scientific article

Pyruvate Dehydrogenase, Lipoamide Dehydrogenase and Citrate Synthase Activity in Fibroblasts from Patients with Friedreich's and Charlevoix-Saguenay Ataxia ⬇️

scientific article published on 01 May 1979

Pyruvate dehydrogenase complex in Friedreich's ataxia

scientific article published on January 1, 1978

Pyruvate metabolism in Friedreich's ataxia

scientific article published on November 1, 1976

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

scientific journal article

Screening for Pompe Disease in Specific At-Risk Populations with Sleep-Disordered Breathing

scientific article published in January 2015

Separation of amniotic fluid cell types in primary culture by Percoll density gradient centrifugation

scientific article published on 01 October 1982

Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients

scientific article published on 06 September 2011

Single column amino acid analysis using lithium buffers and an ammonia filtration system ⬇️

scientific article published on December 23, 1971

Taurine and Beta-Alanine Uptake in Cultured Human Skin Fibroblasts from Patients with Friedreich's Ataxia ⬇️

scientific article published on May 1, 1979

Taurine and Friedreich's ataxia: an update

scientific article published on 01 January 1981

Taurine in cerebrospinal fluid in Friedreich's ataxia

scientific article published on 01 February 1978

The Free Amino Acid Pool of Cultivated Human Skin Fibroblasts

scientific article published on 01 October 1972

The Québec NTBC Study.

scientific article published in January 2017

The beta-amino acid transport system in Friedreich's ataxia

scientific article published on 01 November 1980

The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada

scientific article (publication date: December 1992)

The peculiar odor of schizophrenics

scientific article published on August 1, 1970

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

scientific article

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease

scientific article published on 26 November 2007

Volatile fatty acids in normal human physiological fluids ⬇️

scientific article published on 01 September 1970

[Cell mechanisms in aging: genetic studies using tissue culture]

scientific article published in February 1980

[Physiological limitation of benzoic acid detoxification by glycine-n-acylase in the normal human being (child and adult)]

scientific article published in April 1974

[Prenatal diagnosis of genetic diseases. I: indications]

scientific article published on 01 March 1982

[Role of the genes in odontogenesis]

scientific article published on 01 January 1984

[Sandhoff's disease: clinical and genetic study of a French-Canadian child]

scientific article published on 01 July 1974

[Studies on sialidosis and mucolipidosis. Properties of neuraminidase in cultured skin fibroblasts]

scientific article published on 01 September 1982

[The Romano-Ward syndrome: review of the literature a propos of a French-Canadian family]

scientific article published on 01 August 1980

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