Michal F. Patalan

Szczecin, ZP, Poland

Last Updated: 09/26/2026

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Found 12 publications

Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report.

Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report.

Journal: Frontiers in endocrinology

Published: April 17, 2026

Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity.

Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity.

Journal: Nutrients

Published: July 24, 2024

The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins.

The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins.

Journal: Genes

Published: July 05, 2024

Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

Journal: Nutrients

Published: May 28, 2024

Application of Original Therapy for Stimulation of Oral Areas Innervated by the Trigeminal Nerve in a Child with Beckwith-Wiedemann Syndrome.

Application of Original Therapy for Stimulation of Oral Areas Innervated by the Trigeminal Nerve in a Child with Beckwith-Wiedemann Syndrome.

Journal: Brain sciences

Published: April 28, 2023

Patient with Phenylketonuria and Intellectual Disability-Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome).

Patient with Phenylketonuria and Intellectual Disability-Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome).

Journal: International journal of environmental research and public health

Published: December 13, 2021

Phenylketonuria Patients' and Their Caregivers' Perception of the Pandemic Lockdown: The Results of a National Online Survey.

Phenylketonuria Patients' and Their Caregivers' Perception of the Pandemic Lockdown: The Results of a National Online Survey.

Journal: Children (Basel, Switzerland)

Published: November 22, 2021

The Impact of the COVID-19 Pandemic on the Perception of Health and Treatment-Related Issues among Patients with Phenylketonuria in Poland-The Results of a National Online Survey.

The Impact of the COVID-19 Pandemic on the Perception of Health and Treatment-Related Issues among Patients with Phenylketonuria in Poland-The Results of a National Online Survey.

Journal: International journal of environmental research and public health

Published: March 29, 2021

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.

Journal: Frontiers in immunology

Published: April 30, 2020

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

Journal: Journal of medical genetics

Published: December 01, 2017

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.

Journal: Nature communications

Published: April 30, 2015

The significance of molecular studies in the long-term follow-up of children with beckwith- wiedemann syndrome.

The significance of molecular studies in the long-term follow-up of children with beckwith- wiedemann syndrome.

Journal: The Turkish journal of pediatrics

Published: June 10, 2014

Showing 1-12 of 12

Last Updated: 09/26/2026