E. Małunowicz

发表

The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens.

Kenneth L. Jones, C. Shackleton, D. Fisher, 2002, The Journal of clinical endocrinology and metabolism.

Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche

I. Hughes, C. Shackleton, N. Krone, 2010, The Journal of clinical endocrinology and metabolism.

at Adrenarche Genes Presenting with 46,XY Disordered Sex Development and Androgenization Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor

I. Hughes, N. Krone, W. Arlt, 2010 .

Genes Presenting with 46 , XY Disordered Sex Development and Androgenization Concomitant Mutations in the P 450 Oxidoreductase and Androgen Receptor

I. Hughes, N. Krone, W. Arlt, 2010 .

Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study

C. Shackleton, E. Walker, P. Stewart, 2004, The Lancet.

Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.

D. Ray, J. Connell, G. Lavery, 2008, The Journal of clinical endocrinology and metabolism.

Biochemical diagnosis of Antley–Bixler syndrome by steroid analysis

N. Murphy, R. Hopkin, J. Marcos, 2004, American journal of medical genetics. Part A.

Factors influencing adrenocortical suppression during long-term triamcinolone acetonide therapy in asthma.

W. Droszcz, E. Małunowicz, B. Piotrowska, 1980, Annals of allergy.

LC-MS/MS improves screening towards 21-hydroxylase deficiency

T. Bednarczuk, M. Dadlez, Z. Bartoszewicz, 2015, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

11β-Hydroxysteroid Dehydrogenase Type 1 Deficiency (‘Apparent Cortisone Reductase Deficiency’) in a 6-Year-Old Boy

A. Bossowski, E. Małunowicz, M. Urban, 2003, Hormone Research in Paediatrics.

Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome.

A. Jezela-Stanek, B. Goryluk-Kozakiewicz, M. Krajewska-Walasek, 2015, Ginekologia polska.

Hydrogen transfer reactions catalysed by cobalt complexes I. Hydrogen transfer between cyclohexanone and isopropyl alcohol catalyzed by a derivative of tris(triphenylphosphine)cobalt trihydride

E. Małunowicz, Z. Lasocki, S. Tyrlik, 1974 .

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

M. Dattani, P. Hindmarsh, M. Kempers, 2011, The Journal of clinical endocrinology and metabolism.

Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome

C. Shackleton, E. Małunowicz, 2003, Steroids.

Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

M. Dattani, B. Köhler, L. Graul-Neumann, 2010, The Journal of clinical endocrinology and metabolism.

Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency

D. Ray, J. Connell, P. White, 2003, Nature Genetics.

Goitre and hypothyroidism in children and adolescents during long-term anticonvulsive therapy

E. Małunowicz, A. Karkowski, H. Krawcyska, 1978, Pediatric Research.

Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses.

R. Bernhardt, M. Hartmann, S. Wudy, 2010, Molecular genetics and metabolism.

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes

M. Krawczyński, A. Rojek, M. Niedziela, 2016, International journal of endocrinology.

Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene

R. Bernhardt, M. Hartmann, S. Wudy, 2016, The Journal of Steroid Biochemistry and Molecular Biology.

[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency--management in adults].

T. Bednarczuk, U. Ambroziak, B. Grzechocinska, 2010, Endokrynologia Polska.

The influence of prenatal dexamethasone treatment on urinary excretion of adrenocortical steroids in newborns

E. Małunowicz, T. Romer, M. Ginalska-Malinowska, 1998, European Journal of Pediatrics.

Assessment of adrenocortical function in asthmatic patients on long-term triamcinolone acetonide treatment.

W. Droszcz, E. Małunowicz, H. Krawczyńska, 1979, Annals of allergy.

The diagnosis of nonclassic congenital adrenal hyperplasia due to 21‐hydroxylase deficiency, based on serum basal or post‐ACTH stimulation 17‐hydroxyprogesterone, can lead to false‐positive diagnosis

A. Kuryłowicz, P. Miśkiewicz, U. Ambroziak, 2016, Clinical endocrinology.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - management in adults.

T. Bednarczuk, U. Ambroziak, B. Grzechocinska, 2010, Endokrynologia Polska.

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Aleksandra Jezela-Stanek, A. Latos-Bieleńska, A. Jezela-Stanek, 2010, Journal of Inherited Metabolic Disease.

Heterogeneity of urinary steroid profiles in children with adrenocortical tumors.

E. Małunowicz, T. Romer, M. Ginalska-Malinowska, 1995, Hormone research.

Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: frequency in children with precocious pubarche and in adolescent girls with menstrual disturbances and/or hirsutism

E. Małunowicz, T. Romer, M. Ginalska-Malinowska, 1998 .

Definitive diagnosis of enzymatic deficiencies of steroidogenesis in at-risk newborns and infants by urinary marker analysis using GC/MS-SIM.

E. Moszczyńska, E. Małunowicz, T. Romer, 1997, Hormone Research.

A case of recurrent labial adhesions in a 15-month-old child with asymptomatic non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Małgorzata Wójcik, J. Starzyk, E. Małunowicz, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

Broad phenotypic spectrum of 17[alpha]-hydroxylase deficiency: Functional characterisation of 4 novel mutations in the CYP17A1 gene

T. Cheetham, C. Shackleton, N. Taylor, 2012 .

Combined deficiency of 17 alpha-hydroxylase and 21-hydroxylase in an 8 years old girl.

Z. Mielniczuk, E. Małunowicz, M. Szarras-Czapnik, 1987, Endokrynologia Polska.