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Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review

International journal of molecular sciences, 2023-12, Vol.24 (23), p.17024

2023

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Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review

International journal of molecular sciences, 2023-12, Vol.24 (24), p.17388

2023

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Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency

International journal of molecular sciences, 2024-09, Vol.25 (17), p.9637

2024

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Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report

Italian journal of pediatrics, 2020-10, Vol.46 (1), p.161-161, Article 161

2020

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Iodine Absorption in Celiac Children: A Longitudinal Pilot Study

Nutrients, 2021-03, Vol.13 (3), p.808

2021

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Congenital hypothyroidism after newborn screening program reorganization in the Apulia region

Italian journal of pediatrics, 2022-07, Vol.48 (1), p.1-131, Article 131

2022

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Biomarkers and Biochemical Indicators to Evaluate Bone Metabolism in Preterm Neonates

Biomedicines, 2024-06, Vol.12 (6), p.1271

2024

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Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis

JIMD reports, 2022-07, Vol.63 (4), p.276-291

2022

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Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

International journal of neonatal screening, 2022-08, Vol.8 (3), p.47

2022

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Potential benefits of taurine in the prevention of skeletal muscle impairment induced by disuse in the hindlimb-unloaded rat

Amino acids, 2012-07, Vol.43 (1), p.431-445

2012

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First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele

Journal of cystic fibrosis, 2024-07, Vol.23 (4), p.690-692

2024

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Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR

Biochimica et biophysica acta, 1992-12, Vol.1180 (2), p.113-122

1992

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European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance

Journal of cystic fibrosis, 2023-05, Vol.22 (3), p.484-495

2023

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Rearranged mitochondrial genomes are present in human oocytes

American journal of human genetics, 1995-08, Vol.57 (2), p.239-247

1995

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Alteration of excitation‐contraction coupling mechanism in extensor digitorum longus muscle fibres of dystrophic mdx mouse and potential efficacy of taurine

British journal of pharmacology, 2001-03, Vol.132 (5), p.1047-1054

2001

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Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus

American journal of human genetics, 1994-08, Vol.55 (2), p.278-286

1994

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The value of basal and/or stimulated serum gonadotropin levels in prediction of stimulation response and in vitro fertilization outcome

Fertility and sterility, 1988-08, Vol.50 (2), p.298-307

1988

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Characterization of channel-forming activity in muscle biopsy from a porin-deficient human patient

Journal of bioenergetics and biomembranes, 2000-12, Vol.32 (6), p.585-593

2000

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Value of suppression with a gonadotropin-releasing hormone agonist prior to gonadotropin stimulation for in vitro fertilization

Fertility and sterility, 1989-02, Vol.51 (2), p.292-297

1989

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Successful establishment of pregnancy by superovulation and intrauterine insemination with sperm recovered by a modified Hotchkiss procedure from a patient with retrograde ejaculation

Fertility and sterility, 1995-11, Vol.64 (5), p.1039-1042

1995

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Controlled preparation of the endometrium with exogenous steroids for the transfer of frozen-thawed pre-embryos in patients with anovulatory or irregular cycles

Human reproduction (Oxford), 1991-03, Vol.6 (3), p.443-445

1991

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PROFILO DI BONIFACIO DE' PITATI

Saggi e memorie di storia dell'arte, 1986-01, Vol.15, p.83-277

Simonetti, Simonetta

1986

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Combined impact of the number of pre-ovulatory oocytes and cryopreservation on IVF outcome

Human reproduction (Oxford), 1991-02, Vol.6 (2), p.284-289

1991

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Equivalency of human menopausal gonadotropin and follicle-stimulating hormone stimulation after gonadotropin-releasing hormone agonist suppression

Fertility and sterility, 1990-01, Vol.53 (1), p.103-106

1990

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Follicular atresia associated with concurrent initiation of gonadotropin-releasing hormone agonist and follicle-stimulating hormone for oocyte recruitment

Fertility and sterility, 1988-12, Vol.50 (6), p.917-921

1988

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Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review

Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review

Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency

Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report

Iodine Absorption in Celiac Children: A Longitudinal Pilot Study

Congenital hypothyroidism after newborn screening program reorganization in the Apulia region

Biomarkers and Biochemical Indicators to Evaluate Bone Metabolism in Preterm Neonates

Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

Potential benefits of taurine in the prevention of skeletal muscle impairment induced by disuse in the hindlimb-unloaded rat

First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele

Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR

European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance

Rearranged mitochondrial genomes are present in human oocytes

Alteration of excitation‐contraction coupling mechanism in extensor digitorum longus muscle fibres of dystrophic mdx mouse and potential efficacy of taurine

Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus

The value of basal and/or stimulated serum gonadotropin levels in prediction of stimulation response and in vitro fertilization outcome

Characterization of channel-forming activity in muscle biopsy from a porin-deficient human patient

Value of suppression with a gonadotropin-releasing hormone agonist prior to gonadotropin stimulation for in vitro fertilization

Successful establishment of pregnancy by superovulation and intrauterine insemination with sperm recovered by a modified Hotchkiss procedure from a patient with retrograde ejaculation

Controlled preparation of the endometrium with exogenous steroids for the transfer of frozen-thawed pre-embryos in patients with anovulatory or irregular cycles

PROFILO DI BONIFACIO DE' PITATI

Combined impact of the number of pre-ovulatory oocytes and cryopreservation on IVF outcome

Equivalency of human menopausal gonadotropin and follicle-stimulating hormone stimulation after gonadotropin-releasing hormone agonist suppression

Follicular atresia associated with concurrent initiation of gonadotropin-releasing hormone agonist and follicle-stimulating hormone for oocyte recruitment

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