First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child.

Hiromi Nyuzuki, Taro Yamazaki, Megumi Saito, Akira Ohtake

Abstract readCase Reports

In one paragraph

Article in Molecular genetics and metabolism reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.Orphanet journal of rare diseases · 2020
Review

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Hiromi NyuzukiDepartment of Pediatrics, Niigata University, Niigata, Japan.

Taro YamazakiDepartment of Pediatrics, Saitama Medical University, Saitama, Japan.

Megumi SaitoDepartment of Clinical Genomics, Saitama Medical University, Saitama, Japan.

Akira OhtakeDepartment of Pediatrics, Saitama Medical University, Saitama, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Sapropterin dihydrochloride (SD) may be a new treatment option for women with phenylketonuria (PKU) who plan to become pregnant. We report the first Japanese case of maternal PKU treated with SD. The patient was administered SD at 10-20 mg/kg/day, which increased phenylalanine tolerance during the pregnancy and lactation. No adverse events occurred, and she delivered a healthy neonate. Normal growth and development of the child confirms the efficacy and safety of SD.

Indexed as

Growth and developmentMaternal phenylketonuriaSapropterin dihydrochloride

Identifiers

PMID31720228

DOI10.1016/j.ymgmr.2019.100526

PMCPMC6839020

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.