4.7 Article

Anthropometrics, Dietary Intake and Body Composition in Urea Cycle Disorders and Branched Chain Organic Acidemias: A Case Study of 18 Adults on Low-Protein Diets

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Nutrition & Dietetics

High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

F. Molema et al.

Summary: The study found that protein prescriptions in MMA and PA patients often exceeded the recommended intake levels set by the World Health Organization, and were associated with poor outcomes. Higher protein prescriptions were linked to adverse outcomes in severely affected patients.

CLINICAL NUTRITION (2021)

Article Endocrinology & Metabolism

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Patrick Forny et al.

Summary: This article summarizes the latest guidelines for isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA), providing a more concise version through an expert panel evaluation and compilation of recommendations to assist healthcare professionals in making informed decisions in patient care.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

Review Nutrition & Dietetics

Is the Phenylalanine-Restricted Diet a Risk Factor for Overweight or Obesity in Patients with Phenylketonuria (PKU)? A Systematic Review and Meta-Analysis

Catarina Rodrigues et al.

Summary: This study found that the majority of patients with PKU had similar body mass index (BMI) compared to healthy controls, with no evidence that a phenylalanine (Phe)-restricted diet leads to overweight. However, a subgroup of patients with classical PKU showed significantly higher BMI compared to healthy controls. Thus, patients with PKU should receive lifelong follow-up, personalized nutritional counseling, and systematic nutritional status monitoring.

NUTRIENTS (2021)

Article Nutrition & Dietetics

Evaluation of Body Composition, Physical Activity, and Food Intake in Patients with Inborn Errors of Intermediary Metabolism

Maria-Jose De Castro et al.

Summary: Children with inborn errors of intermediary metabolism (IEiM) undergoing dietary treatment may experience lower height, abnormal waist circumference, and reduced bone mineral density, especially in those with amino acid and carbohydrate metabolism disorders.

NUTRIENTS (2021)

Article Genetics & Heredity

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

J. Gerard Loeber et al.

Summary: Neonatal screening in Europe has been evolving since the 1960s, with significant progress made between 2010 and 2020 in terms of methodological advancements and expansion of screened conditions. Collaboration within Europe is increasing, which is crucial for timely detection and intervention for newborns with rare diseases.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

Article Endocrinology & Metabolism

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Johannes Haberle et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2019)

Article Environmental Sciences

Overweight: A Protective Factor against Comorbidity in the Elderly

Giovanni Mario Pes et al.

INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2019)

Review Endocrinology & Metabolism

Effects of medical food leucine content in the management of methylmalonic and propionic acidemias

Jennifer G. Myles et al.

CURRENT OPINION IN CLINICAL NUTRITION AND METABOLIC CARE (2018)

Review Cardiac & Cardiovascular Systems

An Overview and Update on Obesity and the Obesity Paradox in Cardiovascular Diseases

Andrew Elagizi et al.

PROGRESS IN CARDIOVASCULAR DISEASES (2018)

Article Endocrinology & Metabolism

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Andrew A. M. Morris et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2017)

Review Genetics & Heredity

The complete European guidelines on phenylketonuria: diagnosis and treatment

A. M. J. van Wegberg et al.

ORPHANET JOURNAL OF RARE DISEASES (2017)

Article Biochemistry & Molecular Biology

The role of leucine and its metabolites in protein and energy metabolism

Yehui Duan et al.

AMINO ACIDS (2016)

Review Endocrinology & Metabolism

Weight Management in Phenylketonuria: What Should Be Monitored?

Julio Cesar Rocha et al.

ANNALS OF NUTRITION AND METABOLISM (2016)

Review Nutrition & Dietetics

Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management

Suzanne W. Boyer et al.

NUTRITION IN CLINICAL PRACTICE (2015)

Article Nutrition & Dietetics

Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients

Luis Aldamiz-Echevarria et al.

CLINICAL NUTRITION (2014)

Article Endocrinology & Metabolism

Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach

Dianne M. Frazier et al.

MOLECULAR GENETICS AND METABOLISM (2014)

Review Endocrinology & Metabolism

New ways of defining protein and energy relationships in inborn errors of metabolism

Maureen Humphrey et al.

MOLECULAR GENETICS AND METABOLISM (2014)

Review Endocrinology & Metabolism

Is overweight an issue in phenylketonuria?

Julio C. Rocha et al.

MOLECULAR GENETICS AND METABOLISM (2013)

Review Genetics & Heredity

Recommendations for the management of tyrosinaemia type 1

Corinne de Laet et al.

ORPHANET JOURNAL OF RARE DISEASES (2013)

Article Endocrinology & Metabolism

High prevalence of overweight and obesity in females with phenylketonuria

Lindsay C. Burrage et al.

MOLECULAR GENETICS AND METABOLISM (2012)

Article Nutrition & Dietetics

Phase angle from bioelectrical impedance analysis:: Population reference values by age, sex, and body mass index

Anja Bosy-Westphal et al.

JOURNAL OF PARENTERAL AND ENTERAL NUTRITION (2006)

Review Nutrition & Dietetics

The effects of high protein diets on thermogenesis, satiety and weight loss: A critical review

TL Halton et al.

JOURNAL OF THE AMERICAN COLLEGE OF NUTRITION (2004)