Lista de obras - Ewa Pronicka - Dominio Público Uruguay

"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.

artículo científico publicado en 2013

13C NMR spectroscopy: a convenient tool for detection of argininosuccinic aciduria

artículo científico publicado en 2001

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

article

A case of Menkes disease cell culture examination and elastic cartilage electronmicroscopy.

artículo científico publicado en 1985

A case of organic aciduria--suspected 3-hydroxy-3-methylglutaric aciduria

artículo científico publicado el 1 de octubre de 1991

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

artículo científico publicado en 2010

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

artículo científico publicado en 2017

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

artículo científico publicado en 2017

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evol

artículo científico publicado en 1997

Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.

artículo científico publicado en 2001

Abolished phosphaturic response to parathormone in adult patients with Fahr disease and its restoration after propranolol administration

artículo científico publicado en 1988

Acid-base equilibrium in the course of treatment of rheumatic fever in children

artículo científico publicado el 1 de abril de 1970

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations

artículo científico publicado en 2012

Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children.

artículo científico publicado en 2016

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population

artículo científico publicado en 2006

Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation

artículo científico publicado en 2021

Anthropometric characteristics of X-linked hypophosphatemia

artículo científico publicado en 2004

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

scientific journal article

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

artículo científico publicado en 2016

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.

artículo científico publicado en 2017

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

artículo científico publicado en 2016

Biochemical and DNA markers of X-linked hypophosphataemic rickets: a study of sporadic cases

scientific article published on 01 January 1992

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

artículo científico publicado en 2015

Carbohydrate deficient glycoprotein syndrome – like transferrin isoelectric focusing pattern in untreated fructosaemia

artículo científico publicado en 1996

Carbohydrate deficient glycoprotein syndrome--like transferrin isoelectric focusing pattern in untreated fructosaemia

scientific article published on 01 April 1996

Carpal tunnel syndrome in children with mucopolysaccharidoses: needs for surgical tendons and median nerve release

artículo científico publicado en 1988

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

artículo científico publicado en 2007

Clinical and diagnostic aspects of Barth syndrome (X-linked cardiomyopathy)

artículo científico publicado en 2011

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

artículo científico publicado en 2018

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene

artículo científico publicado en 2008

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.

artículo científico publicado en 2003

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

artículo científico publicado en 2018

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

artículo científico publicado en 2008

Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy

scientific article published on 25 September 2017

Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates.

artículo científico publicado en 2001

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

artículo científico publicado en 2016

Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations

artículo científico publicado en 2004

Decreased affinity of phosphorylase a for glucose‐1‐phosphate in polymorphonuclear leukocytes of a patient with glycogenosis type VI

artículo científico publicado en 1986

Determination of partial carbon dioxide pressure in the blood in the assessment of damage of the central nervous system in fever-induced seizures in children

artículo científico publicado en 1974

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

artículo científico publicado en 2016

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

artículo científico publicado en 1997

Disturbances in histidine metabolism in children with speech abnormalities

artículo científico publicado en 1985

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

artículo científico publicado en 2002

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

artículo científico publicado en 2007

Dominantly inherited isolated hyperparathyroidism: a syndromic association?

artículo científico publicado en 1999

Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene

artículo científico publicado en 2011

Elevated Carbohydrate-Deficient Transferrin (CDT) and Its Normalization on Dietary Treatment as a Useful Biochemical Test for Hereditary Fructose Intolerance and Galactosemia

artículo científico publicado en 2007

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

artículo científico publicado en 2020

Extremely low serum pyridoxal 5'-phosphate in children with familial hypophosphatemic rickets

artículo científico publicado en 1991

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

artículo científico publicado en 2015

False positive results of mitochondrial DNA depletion/deletion due to single nucleotide substitutions causing appearance of additional PvuII restriction sites

artículo científico publicado en 2007

Familial hypomagnesaemia with secondary hypocalcaemia--autosomal or X-linked inheritance?

artículo científico publicado en 1991

Genetic background of HSH in three Polish families and a patient with an X;9 translocation

artículo científico publicado en 2006

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

artículo científico publicado en 2000

Glycogenosis type VI and VIa--biochemical and clinical documentation

artículo científico publicado en 1985

High frequency of missense mutations in glycogen storage disease type VI

artículo científico publicado en 2007

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients

artículo científico publicado en 2008

Hypocapnic hypothesis of Leigh disease

artículo científico publicado en 2017

Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations

artículo científico publicado en 2008

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria

artículo científico publicado en 2004

Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report

artículo científico publicado en 2017

Idiopathic hypercalcemia as a syndrome of hypersensitivity to vitamin D3 in 19 infants

artículo científico publicado en 1985

Idiopathic juvenile osteoporosis with the symptoms suggesting nervous system damage

artículo científico publicado en 1989

Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).

artículo científico publicado en 2011

Increased serum level of 1,25-dihydroxyvitamin D3 after parathyroid hormone in the normocalcemic phase of idiopathic hypercalcemia

scientific article published on 01 June 1988

Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance

artículo científico publicado en 1996

Iron metabolism in experimental rickets. I. Intestinal absorption of iron in rat rickets

artículo científico publicado el 1 de junio de 1975

Lectin-reactive alpha-fetoprotein in tyrosinaemia type I

artículo científico publicado en 2005

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

artículo científico publicado en 2013

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

artículo científico publicado en 2017

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

artículo científico publicado en 1996

Long-term clinical effects of enzyme replacement therapy in MPS II

artículo científico publicado en 2017

Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations

artículo científico publicado en 2020

MELAS--mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome--two cases confirmed by biochemical and molecular investigations. Differential diagnosis of stroke causes

artículo científico publicado en 2002

MRI of a family with leukoencephalypathy with vanishing white matter.

artículo científico publicado en 2005

Meconium peritonitis: a spontaneous cure

artículo científico publicado en 1970

Medium-chain fatty acid triglycerides (MCT) in the treatment of chronic malabsorption

artículo científico publicado el 1 de enero de 1979

Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background

artículo científico publicado en 2008

Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence

article

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations

artículo científico publicado en 2010

Molecular investigations of mitochondrial deletions: evaluating the usefulness of different genetic tests

artículo científico publicado en 2012

Molecular studies of Polish patients with respiratory chain complex I deficiency

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

artículo científico publicado en 2009

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

artículo científico publicado en 2012

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

scientific journal article

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

artículo científico publicado en 2018

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

artículo científico publicado en 2016

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

artículo científico publicado en 2015

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

artículo científico publicado en 2013

Observations on the shifts of the acid-base equilibrium in rachitic tetany.

artículo científico publicado en 1972

Orphanet Polska – w europejskiej sieci jako szansa oceny sytuacji chorób rzadkich na przykładzie wrodzonych wad metabolizmu u dzieci

artículo científico publicado en 2008

Our personal observations on acid-base balance shifts in rickets tetany

artículo científico publicado el 1 de mayo de 1971

Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders

artículo científico publicado en 2010

Pancreatic glucagon levels in infants and children with hyperinsulinemia

artículo científico publicado en 1995

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

artículo científico publicado en 1998

Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II

artículo científico publicado en 2015

Persistent hypercalciuria and elevated 25-hydroxyvitamin D3 in children with infantile hypercalcaemia

artículo científico publicado en 1997

Phototherapy in the prevention of hyperbilirubinemia in premature infants

artículo científico publicado el 1 de febrero de 1974

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

artículo científico publicado en 2010

Primary hyperparathyroidism in infants. Diagnostic and therapeutic difficulties

artículo científico publicado en 1991

Principles of diagnosis and the clinical course of 8 cases of Gaucher's disease (beta-glucocerebrosidase deficiency)

artículo científico publicado en 1987

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

artículo científico publicado en 2017

Prophylaxis of vitamin D deficiency--Polish recommendation 2009

artículo científico publicado en 2010

Prophylaxis of vitamin D deficiency--Polish recommendations 2009

artículo científico publicado en 2010

Proton MR Spectroscopy in Patients with Leigh Syndrome.

artículo científico publicado en 2011

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

artículo científico publicado en 2005

SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome

artículo científico publicado el 1 de enero de 2001

SURF1 missense mutations promote a mild Leigh phenotype.

artículo científico publicado en 2009

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.

artículo científico publicado en 2009

Serum 25-hydroxyvitamin D3 levels in 3- and 6-month-old Warsaw infants receiving daily prophylactically vitamin D3 "Polfa"

artículo científico publicado en 1985

Seventeen novel mutations that cause profound biotinidase deficiency.

artículo científico publicado en 2002

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

artículo científico publicado en 2013

Suspected pyruvate carboxylase deficiency in 4 children with Leigh disease

artículo científico publicado en 1986

The behavior of hepatic phosphorylase b kinase, phosphorylase a and b after administration of glucagon to patients with glycogen storage disease type VIa.

artículo científico publicado en 1986

The cystathionine ?-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype

artículo científico publicado en 2004

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

scientific article published on 10 November 2018

The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients

artículo científico publicado en 1995

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation

artículo científico publicado en 2013

The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

The surgical approach to hyperinsulinism and hypoglycemia in children

artículo científico publicado en 1990

Three cases of beta-galactosidase deficiency

artículo científico publicado en 1981

Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients

artículo científico publicado en 1999

Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls

artículo científico publicado en 2007

Treatment of two children with hereditary tyrosinaemia type I and long-standing renal disease with a 4-hydroxyphenylpyruvate dioxygenase inhibitor (NTBC)

artículo científico publicado en 1996

Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.

artículo científico publicado en 2005

Tubular function of kidney after galactose loading in two patients with glycogen storage disease type XL

artículo científico publicado en 1987

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

artículo científico publicado en 2010

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene

artículo científico publicado el 1 de enero de 2000

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.

artículo científico publicado en 2015

[Polish recommendations related to prophylaxis of vitamin D deficiency - A.D. 2009]

artículo científico publicado en 2009

[Recommendations of prophylaxis of vitamin D deficiency in Poland (2009)]

scientific article published on 01 April 2010

Lista de obras de Ewa Pronicka

"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.

13C NMR spectroscopy: a convenient tool for detection of argininosuccinic aciduria

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

A case of Menkes disease cell culture examination and elastic cartilage electronmicroscopy.

A case of organic aciduria--suspected 3-hydroxy-3-methylglutaric aciduria

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evol

Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.

Abolished phosphaturic response to parathormone in adult patients with Fahr disease and its restoration after propranolol administration

Acid-base equilibrium in the course of treatment of rheumatic fever in children

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations

Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children.

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population

Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation

Anthropometric characteristics of X-linked hypophosphatemia

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

Biochemical and DNA markers of X-linked hypophosphataemic rickets: a study of sporadic cases

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Carbohydrate deficient glycoprotein syndrome – like transferrin isoelectric focusing pattern in untreated fructosaemia

Carbohydrate deficient glycoprotein syndrome--like transferrin isoelectric focusing pattern in untreated fructosaemia

Carpal tunnel syndrome in children with mucopolysaccharidoses: needs for surgical tendons and median nerve release

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

Clinical and diagnostic aspects of Barth syndrome (X-linked cardiomyopathy)

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy

Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates.

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations

Decreased affinity of phosphorylase a for glucose‐1‐phosphate in polymorphonuclear leukocytes of a patient with glycogenosis type VI

Determination of partial carbon dioxide pressure in the blood in the assessment of damage of the central nervous system in fever-induced seizures in children

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

Disturbances in histidine metabolism in children with speech abnormalities

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

Dominantly inherited isolated hyperparathyroidism: a syndromic association?

Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene

Elevated Carbohydrate-Deficient Transferrin (CDT) and Its Normalization on Dietary Treatment as a Useful Biochemical Test for Hereditary Fructose Intolerance and Galactosemia

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

Extremely low serum pyridoxal 5'-phosphate in children with familial hypophosphatemic rickets

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

False positive results of mitochondrial DNA depletion/deletion due to single nucleotide substitutions causing appearance of additional PvuII restriction sites

Familial hypomagnesaemia with secondary hypocalcaemia--autosomal or X-linked inheritance?

Genetic background of HSH in three Polish families and a patient with an X;9 translocation

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

Glycogenosis type VI and VIa--biochemical and clinical documentation

High frequency of missense mutations in glycogen storage disease type VI

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients

Hypocapnic hypothesis of Leigh disease

Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria

Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report

Idiopathic hypercalcemia as a syndrome of hypersensitivity to vitamin D3 in 19 infants

Idiopathic juvenile osteoporosis with the symptoms suggesting nervous system damage

Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).

Increased serum level of 1,25-dihydroxyvitamin D3 after parathyroid hormone in the normocalcemic phase of idiopathic hypercalcemia

Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance

Iron metabolism in experimental rickets. I. Intestinal absorption of iron in rat rickets

Lectin-reactive alpha-fetoprotein in tyrosinaemia type I

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

Leigh syndrome caused by mutations in is associated with a better prognosis

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

Long-term clinical effects of enzyme replacement therapy in MPS II

Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations

MELAS--mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome--two cases confirmed by biochemical and molecular investigations. Differential diagnosis of stroke causes

MRI of a family with leukoencephalypathy with vanishing white matter.

Meconium peritonitis: a spontaneous cure

Medium-chain fatty acid triglycerides (MCT) in the treatment of chronic malabsorption