(Q36810971)

16 August 2017

The adult galactosemic phenotype (English)

1 reference

16 August 2017

1 reference

4

Robert C Green

1 reference

16 August 2017

Nancy L Potter

2

0 references

Corrine K. Welt

object named as

Corrine Welt

9

0 references

Gerard Berry

object named as

Gerard T Berry

32

0 references

David T. Miller

19

object named as

David T Miller

1 reference

16 August 2017

Susan E Waisbren

1

1 reference

16 August 2017

Catherine M Gordon

3

1 reference

16 August 2017

Patricia Greenstein

5

1 reference

16 August 2017

Cynthia S Gubbels

6

1 reference

16 August 2017

Estela Rubio-Gozalbo

7

1 reference

16 August 2017

Donald Schomer

8

1 reference

16 August 2017

Vera Anastasoaie

10

1 reference

16 August 2017

Kali D'Anna

11

1 reference

16 August 2017

Jennifer Gentile

12

1 reference

16 August 2017

Chao-Yu Guo

13

1 reference

16 August 2017

Leah Hecht

14

1 reference

16 August 2017

Roberta Jackson

15

1 reference

16 August 2017

Bernadette M Jansma

16

1 reference

16 August 2017

Yijun Li

17

1 reference

16 August 2017

Va Lip

18

1 reference

16 August 2017

Michael Murray

20

1 reference

16 August 2017

Leslie Power

21

1 reference

16 August 2017

Nicolle Quinn

22

1 reference

16 August 2017

Frances Rohr

23

1 reference

16 August 2017

Yiping Shen

24

1 reference

16 August 2017

Amy Skinder-Meredith

25

1 reference

16 August 2017

Inge Timmers

26

1 reference

16 August 2017

Rachel Tunick

27

1 reference

16 August 2017

Ann Wessel

28

1 reference

16 August 2017

Bai-Lin Wu

29

1 reference

16 August 2017

Harvey Levy

30

1 reference

16 August 2017

Louis Elsas

31

1 reference

16 August 2017

21 July 2011

1 reference

Journal of Inherited Metabolic Disease

16 August 2017

1 reference

16 August 2017

35

1 reference

16 August 2017

2

1 reference

16 August 2017

279-286

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-011-9372-y

16 August 2017

0 references

cites work

The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Gonadal function in male and female patients with classic galactosemia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Vitamin D and adolescents: what do we know?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Correlates of language impairment in children with galactosaemia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Living with classical galactosemia: health-related quality of life consequences.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

The epidemiology of major depressive disorder: results from the National Comorbidity Survey Replication (NCS-R)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Behavior rating inventory of executive function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

The molecular biology of galactosemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Proximal femur bone mineral levels of US adults

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Long‐term prognosis in galactosaemia: Results of a survey of 350 cases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

The neuropsychological profile of galactosaemia.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Longitudinal assessment of intellectual achievement in patients with classical galactosemia

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Serum markers of bone turnover in children and adolescents with classic galactosemia

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

FDG-PET findings in patients with galactosaemia

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Tongue measures in individuals with normal and impaired swallowing.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

The relationship of genotype to cognitive outcome in galactosaemia

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Speech and language deficits in early-treated children with galactosemia.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641771

Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21779791

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hypergonadotropic hypogonadism in female patients with galactosemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21779791

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-011-9372-Y

1 reference

16 August 2017

1 reference

16 August 2017

1 reference