(Q27007539)

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Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature

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19 June 2019

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature (English)

0 references

lysosomal storage disease

1 reference

19 June 2019

hydrops fetalis

1 reference

based on heuristic

inferred from title

2

object named as

Eugen Mengel

1 reference

author name string

Catharina Whybra

1

1 reference

Alexandra Russo

3

1 reference

Franz Bahlmann

4

1 reference

Christoph Kampmann

5

1 reference

Michael Beck

6

1 reference

Elke Eich

7

1 reference

Eva Mildenberger

8

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language of work or name

1 reference

publication date

8 November 2012

6 references

6 March 2019

13 March 2019

24 March 2019

22 April 2019

19 June 2019

Orphanet Journal of Rare Diseases

6 references

6 March 2019

13 March 2019

24 March 2019

22 April 2019

19 June 2019

7

1 reference

86

1 reference

copyright license

Creative Commons Attribution 2.0 Generic

5 references

Europe PubMed Central

6 March 2019

Europe PubMed Central

13 March 2019

Europe PubMed Central

24 March 2019

Europe PubMed Central

22 April 2019

Europe PubMed Central

19 June 2019

copyright status

0 references

on focus list of Wikimedia project

0 references

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

21 March 2017

Nonimmune Hydrops Fetalis Part I: Etiology and Pathophysiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Lysosomal storage disorders in the newborn

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Hydrops fetalis: a retrospective review of cases reported to a large national database and identification of risk factors associated with death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Lysosomal disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Identification of Gaucher cells in the chorionic villi associated with recurrent hydrops fetalis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Hydrops fetalis: lysosomal storage disorders in extremis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Hydrops fetalis in four siblings caused by galactosialidosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Nonimmunologic hydrops fetalis: a review of 61 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Hydrops revisited: literature review of 1,414 cases published in the 1980s

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Cardiac abnormalities and nonimmune hydrops fetalis: a coincidental, not causal, relationship

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Fetal ascites: an unusual presentation of Niemann-Pick disease type C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Nonimmune hydrops fetalis associated with genetic abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 September 2017

Outcome of nonimmune hydrops fetalis diagnosed during the first half of pregnancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

31 May 2018

Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

31 May 2018

GM1-gangliosidosis presenting as nonimmune hydrops fetalis: a case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

31 May 2018

Disseminated lipogranulomatosis (Farber disease) with hydrops fetalis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

31 May 2018

Nonimmune hydrops fetalis may be associated with an elevated delta OD450 in the amniotic fluid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

31 May 2018

Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: successful response to carnitine therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

31 May 2018

Intrauterine brain damage in nonimmune hydrops fetalis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

31 May 2018

Nonimmune hydrops fetalis in the liveborn: series of 32 autopsies

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-86

21 January 2018

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-86

21 January 2018

Isolated fetal ascites caused by Wolman disease

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-86

21 January 2018

S‐adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-86

21 January 2018

Congenital erythropoietic porphyria (Günther's disease): two cases with very early prenatal manifestation and cystic hygroma

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-86

21 January 2018

Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-86

21 January 2018

Refractory congenital ascites as a manifestation of neonatal sialidosis: clinical, biochemical and morphological studies in a newborn Syrian male infant

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-86

21 January 2018

Prenatal diagnosis of lysosomal storage diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3552949

28 November 2018

Prenatal diagnosis of lysosomal storage diseases using fetal blood

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lysosomal storage diseases in non-immune hydrops fetalis pregnancies

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Second-trimester diagnosis of mucopolysaccharidosis type IV a presenting as hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prognostic factors and clinical features in liveborn neonates with hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Etiology of nonimmune hydrops fetalis: a systematic review

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Non-immune hydrops fetalis: a short review of etiology and pathophysiology

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonimmune fetal ascites: a series of 79 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Investigation of lysosomal storage diseases in nonimmune hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Histochemical studies in Wolman's disease--report of an autopsy case accompanied with a large amount of milky ascites

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as nonimmune hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fetal ascites associated with Conradi's disease (chondrodysplasia punctata): report of a case

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal ascites due to lysosomal storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital ascites as a presenting sign of lysosomal storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe nonimmune hydrops fetalis: sonographic evaluation

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hydrops fetalis associated with Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuraminidase deficiency presenting as non-immune hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Fetal ascites as a manifestation of infantile sialidosis. Significance of a study of oligosaccharides in amniotic fluid]

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonimmune hydrops fetalis: clinical experience and factors related to a poor outcome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Morquio disease presenting as hydrops fetalis and enzyme analysis of chorionic villus tissue in a subsequent pregnancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fetal ascites: an unusual presentation of Niemann-Pick disease type C

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Niemann-Pick disease associated with nonimmune hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lysosomal storage diseases presenting as transient or persistent hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fetal presentation of Morquio disease type A

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonimmune hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Survival in non-immune hydrops fetalis without malformation or chromosomal abnormalities after invasive treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fetal ascites and oligohydramnios: prenatal diagnosis of a sialic acid storage disease (index case)

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of outcome in hydrops fetalis in relation to gestational age at diagnosis, cause and treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis and management of nonimmune hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased nuchal translucency in a case of long-chain 3-hydroxyacyl- coenzyme A dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathologic quiz case: a 5-day-old boy with hydrops fetalis. Mucolipidoses I (Sialidosis III)

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis)

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonimmune hydrops fetalis with galactosialidosis: consequences for family planning

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperphosphatasemia in early diagnosed infantile GM1 gangliosidosis presenting as transient hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Diagnosis of lysosomal storage diseases with fetal presentation]

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Sialidosis and galactosialidosis as the cause of non-immunologic hydrops fetalis]

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis and prenatal diagnosis of human fumarase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycogen storage disease type IV presenting as hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites

1 reference

https://pubmed.ncbi.nlm.nih.gov/23137060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1186/1750-1172-7-86

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PubMed publication ID

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